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Intellectual disability, severe

MedGen UID:
48638
Concept ID:
C0036857
Finding
Synonyms: Early and severe mental retardation; Mental retardation, severe; Severe mental retardation
SNOMED CT: Severe mental handicap (40700009); Severe mental retardation (Intelligence Quotient 20-34) (40700009); Severe mental retardation (I.Q. 20-34) (40700009)
 
HPO: HP:0010864

Definition

IQ 20-34. [from PSY]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews
  • CROGIntellectual disability, severe

Conditions with this feature

Steinert myotonic dystrophy syndrome
MedGen UID:
10239
Concept ID:
C0027126
Disease or Syndrome
Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and congenital. Mild DM1 is characterized by cataract and mild myotonia (sustained muscle contraction); life span is normal. Classic DM1 is characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities; adults may become physically disabled and may have a shortened life span. Congenital DM1 is characterized by hypotonia and severe generalized weakness at birth, often with respiratory insufficiency and early death; intellectual disability is common.
Zellweger syndrome
MedGen UID:
21958
Concept ID:
C0043459
Congenital Abnormality
Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD, ZSS) is a continuum of three phenotypes — Zellweger syndrome (ZS), the most severe; neonatal adrenoleukodystrophy (NALD); and infantile Refsum disease (IRD), the least severe — that were originally described before the biochemical and molecular bases of these disorders had been fully determined. Individuals with PBD, ZSS usually come to clinical attention in the newborn period or later in childhood. In the newborn period, affected children are hypotonic, feed poorly, and have distinctive facies, seizures, and liver cysts with hepatic dysfunction. Bony stippling (chondrodysplasia punctata) of the patella(e) and other long bones may occur. Infants with ZS are significantly impaired and typically die during the first year of life, usually having made no developmental progress. Older children have retinal dystrophy, sensorineural hearing loss, developmental delay with hypotonia, and liver dysfunction. The clinical courses of NALD and IRD are variable and may include developmental delays, hearing loss, vision impairment, liver dysfunction, episodes of hemorrhage, and intracranial bleeding. While some children can be very hypotonic, others learn to walk and talk. The condition is often slowly progressive.
Angelman syndrome
MedGen UID:
58144
Concept ID:
C0162635
Disease or Syndrome
Angelman syndrome (AS) is characterized by severe developmental delay or intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability. Microcephaly and seizures are also common. Developmental delays are first noted at around age six months; however, the unique clinical features of AS do not become manifest until after age one year, and it can take several years before the correct clinical diagnosis is obvious.
Walker-Warburg congenital muscular dystrophy
MedGen UID:
75553
Concept ID:
C0265221
Congenital Abnormality
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype.
Borjeson-Forssman-Lehmann syndrome
MedGen UID:
78557
Concept ID:
C0265339
Disease or Syndrome
Microcephaly, characteristic facies (swelling, p prominent supraorbital ridges and narrow palpebral fissures), obesity, epilepsy, and hypogonadism, and mental deficiency.
Dysmorphic sialidosis with renal involvement
MedGen UID:
82778
Concept ID:
C0268232
Congenital Abnormality
Urocanate hydratase deficiency
MedGen UID:
120644
Concept ID:
C0268514
Disease or Syndrome
Secondary hypothyroidism
MedGen UID:
78786
Concept ID:
C0271789
Disease or Syndrome
Carbohydrate-deficient glycoprotein syndrome type II
MedGen UID:
87610
Concept ID:
C0349654
Disease or Syndrome
Congenital disorders of N-linked glycosylation (abbreviated here as CDG-N-linked), are a group of disorders of N-linked oligosaccharides caused by deficiency in 42 different enzymes in the N-linked synthetic pathway. Most commonly, the disorders begin in infancy; manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal development. However, most types have been described in only a few individuals, and thus understanding of the phenotypes is limited. In PMM2-CDG (CDG-Ia), the most common type reported, the clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults.
Kohlschutter's syndrome
MedGen UID:
98036
Concept ID:
C0406740
Congenital Abnormality
Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012).
Muscle eye brain disease
MedGen UID:
105341
Concept ID:
C0457133
Congenital Abnormality
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype.
Chromosome 9q deletion syndrome
MedGen UID:
208639
Concept ID:
C0795833
Disease or Syndrome
Kleefstra syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate to severe spectrum of intellectual disability although a few individuals have mild delay and total IQ around 70. Although most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed including heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy/febrile seizures, autistic-like features in childhood, and extreme apathy or catatonic-like features after puberty.
Allan-Herndon-Dudley syndrome
MedGen UID:
208645
Concept ID:
C0795889
Disease or Syndrome
MCT8-specific thyroid hormone cell-membrane transporter deficiency is characterized by severe cognitive deficiency, infantile hypotonia, diminished muscle mass and generalized muscle weakness, progressive spastic quadriplegia, joint contractures, and dystonic and/or athetoid movement with characteristic paroxysms or kinesigenic dyskinesias. Seizures occur in about 25% of cases. Most affected males never sit or walk independently or lose these abilities over time; most never speak or have severely dysarthric speech. Brain MRI obtained in the first few years of life shows transient delayed myelination, which improves by age four years. Although psychomotor findings observed in affected males do not occur in heterozygous females, the latter often have thyroid test abnormalities intermediate between affected and normal individuals.
Alopecia contractures dwarfism mental retardation
MedGen UID:
167081
Concept ID:
C0795895
Disease or Syndrome
A syndrome of total absence of hair, extreme growth failure, mental retardation, and multiple craniofacial, skeletal, and other abnormalities.
Faciocardiorenal syndrome
MedGen UID:
208649
Concept ID:
C0795936
Disease or Syndrome
A syndrome of characteristic facies, horseshoe kidney, congenital heart defect, and delayed mental and physical development.
Kapur Toriello syndrome
MedGen UID:
208654
Concept ID:
C0796005
Disease or Syndrome
Retarded mental and growth development with variable congenial defects, including heart abnormalities, intestinal malrotation, characteristic facies, and other anomalies.
Laband syndrome
MedGen UID:
208656
Concept ID:
C0796013
Disease or Syndrome
Zimmermann-Laband syndrome is a rare disorder characterized by gingival fibromatosis, dysplastic or absent nails, hypoplasia of the distal phalanges, scoliosis, hepatosplenomegaly, hirsutism, and abnormalities of the cartilage of the nose and/or ears (summary by Balasubramanian and Parker, 2010).
Martsolf syndrome
MedGen UID:
208658
Concept ID:
C0796037
Disease or Syndrome
Mental deficiency, gonadal hypofunction, short stature, "old looking" face, cataracts, and other defects.
Retinopathy pigmentary mental retardation
MedGen UID:
167101
Concept ID:
C0796072
Disease or Syndrome
Mental retardation, retinal pigmentary degeneration, spastic cerebral palsy, and microcephaly with variable expressivity. Mirhosseini-Holmes-Walton and Cohen syndromes share many common characteristics.
Proud Levine Carpenter syndrome
MedGen UID:
163217
Concept ID:
C0796124
Disease or Syndrome
Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype (Proud et al., 1992). Proud syndrome is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome to infantile spasms without brain malformations (EIEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008).
Congenital disorder of glycosylation type 2C
MedGen UID:
162913
Concept ID:
C0796132
Disease or Syndrome
Congenital disorders of N-linked glycosylation (abbreviated here as CDG-N-linked), are a group of disorders of N-linked oligosaccharides caused by deficiency in 42 different enzymes in the N-linked synthetic pathway. Most commonly, the disorders begin in infancy; manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal development. However, most types have been described in only a few individuals, and thus understanding of the phenotypes is limited. In PMM2-CDG (CDG-Ia), the most common type reported, the clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults.
Acrocallosal syndrome, Schinzel type
MedGen UID:
162915
Concept ID:
C0796147
Disease or Syndrome
Classic Joubert syndrome is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS) . Hypotonia. Developmental delays . Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. The designation Joubert syndrome and related disorders (JSRD) is used to describe individuals with JS who have additional findings including retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Brooks Wisniewski Brown syndrome
MedGen UID:
208682
Concept ID:
C0796272
Disease or Syndrome
Mental retardation associated with delayed growth and a distinct facial appearance marked by a triangular shape, bifrontal narrowness, malar flatness, blepharophimosis, deeply set eyes, epicanthus inversus, bulbous nose, low hairline, malformed ears, ill-defined philtrum, and thin tented upper lip.
Nicolaides-Baraitser syndrome
MedGen UID:
220983
Concept ID:
C1303073
Disease or Syndrome
Nicolaides-Baraitser syndrome (NCBRS) is characterized by severe mental retardation, early-onset seizures, short stature, dysmorphic facial features, and sparse hair (summary by Sousa et al., 2009).
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
MedGen UID:
332113
Concept ID:
C1836033
Disease or Syndrome
CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome refers to a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis. Brain magnetic resonance imaging (MRI) shows various degrees of cerebral dysgenesis including absence of corpus callosum and cortical dysplasia. The syndrome has been found to be uniformly fatal between the ages of 5 and 12 years (Fuchs-Telem et al., 2011).
Mental retardation, keratoconus, febrile seizures, and sinoatrial block
MedGen UID:
324455
Concept ID:
C1836202
Disease or Syndrome
Schindler disease, type 1
MedGen UID:
373113
Concept ID:
C1836544
Disease or Syndrome
Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (609242), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).
Mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature
MedGen UID:
324635
Concept ID:
C1836915
Disease or Syndrome
Mental retardation, autosomal recessive 3
MedGen UID:
373870
Concept ID:
C1838023
Disease or Syndrome
Growth failure, microcephaly, mental retardation, cataracts, large joint contractures, osteoporosis, cortical dysplasia, and cerebellar atrophy
MedGen UID:
330820
Concept ID:
C1842321
Disease or Syndrome
Early infantile epileptic encephalopathy 8
MedGen UID:
375581
Concept ID:
C1845102
Disease or Syndrome
Hereditary hyperekplexia (HPX) is characterized by generalized stiffness immediately after birth that normalizes during the first years of life; excessive startle reflex (eye blinking and a flexor spasm of the trunk) to unexpected (particularly auditory) stimuli; and a short period of generalized stiffness following the startle response during which voluntary movements are impossible. Exaggerated head-retraction reflex (HRR) consisting of extension of the head followed by violent flexor spasms of limbs and neck muscles elicited by tapping the tip of the nose is observed in most children. Other findings include periodic limb movements in sleep (PLMS) and hypnagogic (occurring when falling asleep) myoclonus. Sudden infant death (SIDS) has been reported. Intellect is usually normal; mild intellectual disability may occur.
X-linked mental retardation, syndromic, Claes-Jensen type
MedGen UID:
335139
Concept ID:
C1845243
Disease or Syndrome
Mental retardation, X-linked, with short stature
MedGen UID:
375754
Concept ID:
C1845845
Disease or Syndrome
Simpson-Golabi-Behmel syndrome, type 2
MedGen UID:
337527
Concept ID:
C1846175
Disease or Syndrome
Spinocerebellar ataxia autosomal recessive 5
MedGen UID:
376048
Concept ID:
C1847114
Disease or Syndrome
Hypotonia-cystinuria syndrome
MedGen UID:
341133
Concept ID:
C1848030
Disease or Syndrome
Pseudoneonatal adrenoleukodystrophy
MedGen UID:
376636
Concept ID:
C1849678
Disease or Syndrome
Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995).
Palant cleft palate syndrome
MedGen UID:
337971
Concept ID:
C1850102
Disease or Syndrome
Neurologic disease, infantile multisystem, with osseous fragility
MedGen UID:
338057
Concept ID:
C1850465
Disease or Syndrome
Holoprosencephaly, recurrent infections, and monocytosis
MedGen UID:
343987
Concept ID:
C1853187
Disease or Syndrome
Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common. Most affected fetuses do not survive; severely affected children typically do not survive beyond early infancy, while a significant proportion of more mildly affected children survive past 12 months. Mildly manifesting individuals without appreciable brain anomalies on conventional neuroimaging may be described as having “microform” HPE.
Epileptic encephalopathy Lennox-Gastaut type
MedGen UID:
339964
Concept ID:
C1853372
Disease or Syndrome
Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individuals have tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures occur most often during sleep. Also common are atypical absence seizures, which cause a partial or complete loss of consciousness. Additionally, many affected individuals have drop attacks, which are sudden episodes of weak muscle tone. Drop attacks can result in falls that cause serious or life-threatening injuries. Other types of seizures have been reported less frequently in people with Lennox-Gastaut syndrome. Most of the seizures associated with Lennox-Gastaut syndrome are very brief. However, more than two-thirds of affected individuals experience at least one prolonged period of seizure activity known as nonconvulsive status epilepticus. These episodes can cause confusion and a loss of alertness lasting from hours to weeks. Almost all children with Lennox-Gastaut syndrome develop learning problems and intellectual disability associated with their frequent seizures. Because the seizures associated with this condition are difficult to control with medication, the intellectual disability tends to worsen with time. Some affected children develop additional neurological abnormalities and behavioral problems. Many also have delayed development of motor skills such as sitting and crawling. As a result of their seizures and progressive intellectual disability, most people with Lennox-Gastaut syndrome require help with some or all of the usual activities of daily living. However, a small percentage of affected adults live independently. People with Lennox-Gastaut syndrome have an increased risk of death compared to their peers of the same age. Although the increased risk is not fully understood, it is partly due to poorly controlled seizures and injuries from falls.
Fryns-Aftimos syndrome
MedGen UID:
340016
Concept ID:
C1853623
Disease or Syndrome
Chudley Rozdilsky syndrome
MedGen UID:
381471
Concept ID:
C1854663
Disease or Syndrome
Joubert syndrome with oculorenal anomalies
MedGen UID:
340930
Concept ID:
C1855675
Disease or Syndrome
Classic Joubert syndrome is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS) . Hypotonia. Developmental delays . Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. The designation Joubert syndrome and related disorders (JSRD) is used to describe individuals with JS who have additional findings including retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Hyperphosphatasia with mental retardation syndrome 1
MedGen UID:
383800
Concept ID:
C1855923
Disease or Syndrome
Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation Syndrome See also HPMRS2 (614749), caused by mutation in the PIGO gene (614730) on chromosome 9p13; HPMRS3 (614207), caused by mutation in the PGAP2 gene (615187) on chromosome 11p15; HPMRS4 (615716), caused by mutation in the PGAP3 gene (611801) on chromosome 17q12; and HPMRS5 (616025), caused by mutation in the PIGW gene (610275) on chromosome 17q12.
L-2-hydroxyglutaric aciduria
MedGen UID:
341029
Concept ID:
C1855995
Disease or Syndrome
2-hydroxyglutaric aciduria is a condition that causes progressive damage to the brain. The major types of this disorder are called D-2-hydroxyglutaric aciduria (D-2-HGA), L-2-hydroxyglutaric aciduria (L-2-HGA), and combined D,L-2-hydroxyglutaric aciduria (D,L-2-HGA). The main features of D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. Researchers have described two subtypes of D-2-HGA, type I and type II. The two subtypes are distinguished by their genetic cause and pattern of inheritance, although they also have some differences in signs and symptoms. Type II tends to begin earlier and often causes more severe health problems than type I. Type II may also be associated with a weakened and enlarged heart (cardiomyopathy), a feature that is typically not found with type I. L-2-HGA particularly affects a region of the brain called the cerebellum, which is involved in coordinating movements. As a result, many affected individuals have problems with balance and muscle coordination (ataxia). Additional features of L-2-HGA can include delayed development, seizures, speech difficulties, and an unusually large head (macrocephaly). Typically, signs and symptoms of this disorder begin during infancy or early childhood. The disorder worsens over time, usually leading to severe disability by early adulthood. Combined D,L-2-HGA causes severe brain abnormalities that become apparent in early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually survive only into infancy or early childhood.
Hutterite cerebroosteonephrodysplasia syndrome
MedGen UID:
343466
Concept ID:
C1856054
Disease or Syndrome
GOMBO syndrome
MedGen UID:
343515
Concept ID:
C1856274
Disease or Syndrome
Ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
MedGen UID:
347363
Concept ID:
C1857053
Disease or Syndrome
Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy
MedGen UID:
341752
Concept ID:
C1857352
Disease or Syndrome
Craniosynostosis-mental retardation syndrome of Lin and Gettig
MedGen UID:
341781
Concept ID:
C1857473
Disease or Syndrome
Microhydranencephaly
MedGen UID:
341899
Concept ID:
C1857977
Disease or Syndrome
Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012).
Choroid plexus calcification with mental retardation
MedGen UID:
395174
Concept ID:
C1859092
Disease or Syndrome
Cataract-microcephaly-failure to thrive-kyphoscoliosis
MedGen UID:
347121
Concept ID:
C1859312
Disease or Syndrome
Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
MedGen UID:
347941
Concept ID:
C1859724
Disease or Syndrome
Alopecia mental retardation syndrome 1
MedGen UID:
349263
Concept ID:
C1859878
Disease or Syndrome
Alopecia-mental retardation syndrome (APMR) is a rare autosomal recessive disorder in which affected individuals show loss of hair on the scalp, absence of eyebrows, eyelashes, and axillary and pubic hair, and mild to severe mental retardation (summary by Wali et al., 2007). Genetic Heterogeneity of Alopecia-Mental Retardation Syndrome Alopecia-mental retardation syndrome-1 (APMR1) has been mapped to chromosome 3q26.3-q27.3. Additional loci for alopecia-mental retardation syndrome have been mapped to chromosome 3q26.2-q26.31 (APMR2; 610422) and chromosome 18q11.2-q12.2 (APMR3; 613930).
Idiopathic basal ganglia calcification childhood-onset
MedGen UID:
396262
Concept ID:
C1861967
Disease or Syndrome
Bilateral striopallidodentate calcinosis, also known as idiopathic basal ganglia calcification (IBGC), is characterized by the accumulation of calcium deposits in different brain regions and is associated with a neurodegenerative clinical phenotype. The changes seen in IBGC occur in the absence of calcium or parathyroid hormone (PTH; 168450) metabolic disorders, such as hypoparathyroidism (see 146200) or pseudohypoparathyroidism (PHP; see 103580). See also the adult-onset form (213600), which is sometimes erroneously referred to as 'Fahr disease.'
Ceroid lipofuscinosis neuronal 10
MedGen UID:
350481
Concept ID:
C1864669
Disease or Syndrome
The neuronal ceroid-lipofuscinoses (NCLs) are a group of inherited, neurodegenerative, lysosomal storage disorders characterized by progressive intellectual and motor deterioration, seizures, and early death. Visual gvhmloss is a feature of most forms. Clinical phenotypes have been characterized traditionally according to the age of onset and order of appearance of clinical features into infantile, late-infantile, juvenile, adult, and Northern epilepsy (also known as progressive epilepsy with mental retardation [EPMR]). There is however genetic and allelic heterogeneity; a proposed new nomenclature and classification system has been developed to take into account both the responsible gene and the age at disease onset; for example, CLN1 disease, infantile onset and CLN1 disease, juvenile onset are both caused by mutations in PPT1 but with differing age of onset. The most prevalent NCLs are CLN3 disease, classic juvenile and CLN2 disease, classic late infantile (although prevalence varies by ethnicity and country of family origin): CLN2 disease, classic late infantile. The first symptoms typically appear between age two and four years, usually starting with epilepsy, followed by regression of developmental milestones, myoclonic ataxia, and pyramidal signs. Visual impairment typically appears at age four to six years and rapidly progresses to light /dark awareness only. Life expectancy ranges from age six years to early teenage. CLN3 disease, classic juvenile. Onset is usually between ages four and ten years. Rapidly progressing visual loss resulting in severe visual impairment within one to two years is often the first clinical sign. Epilepsy with generalized tonic-clonic seizures and/or complex-partial seizures typically appears around age ten years. Life expectancy ranges from the late teens to the 30s. Other forms of NCL may present with behavior changes, epilepsy, visual impairment, or slowing of developmental progress and then loss of skills. The course may be extremely variable. Some genotype-phenotype information is available.
Patterson pseudoleprechaunism syndrome
MedGen UID:
358350
Concept ID:
C1868546
Disease or Syndrome
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome (WHS) is characterized by typical craniofacial features in infancy consisting of 'Greek warrior helmet appearance' of the nose (the broad bridge of the nose continuing to the forehead), microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, highly arched eyebrows, short philtrum, downturned mouth, micrognathia, and poorly formed ears with pits/tags. All affected individuals have prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment. Developmental delay/intellectual disability of variable degree is present in all. Seizures occur in 50% to 100% of children with WHS. Other findings include skeletal anomalies (60%-70%), congenital heart defects (~50%), hearing loss (mostly conductive) (>40%), urinary tract malformations (25%), and structural brain abnormalities (33%).
Encephalopathy, neonatal severe, due to MECP2 mutations
MedGen UID:
409616
Concept ID:
C1968556
Disease or Syndrome
MECP2-related disorders in females include classic Rett syndrome, variant Rett syndrome, and mild learning disabilities. A MECP2 mutation in a male is presumed to most often be lethal; phenotypes in rare surviving males are primarily severe neonatal encephalopathy and manic-depressive psychosis, pyramidal signs, Parkinsonian, and macro-orchidism (PPM-X syndrome). Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Atypical Rett syndrome is observed increasingly as MECP2 mutations are identified in individuals previously diagnosed with: clinically suspected but molecularly unconfirmed Angelman syndrome; intellectual disability with spasticity or tremor; mild learning disability; or (rarely) autism. Severe neonatal encephalopathy resulting in death before age two years is the most common phenotype observed in affected males.
Lissencephaly 3
MedGen UID:
369910
Concept ID:
C1969029
Disease or Syndrome
Pitt-Hopkins syndrome
MedGen UID:
370910
Concept ID:
C1970431
Disease or Syndrome
Pitt-Hopkins syndrome (PTHS) is characterized by distinctive facial features which become more apparent with age (100%), developmental delay/intellectual disability (100%), and episodic hyperventilation and/or breath-holding while awake (55%-60%). Global developmental delays are significant and intellectual disability is moderate to severe: mean age of walking is four to six years; most affected individuals are nonverbal. Other common findings are behavioral issues, hand stereotypic movements, seizures (40%-50%), constipation, and severe myopia.
Hypothyroidism, congenital, nongoitrous, 5
MedGen UID:
388687
Concept ID:
C2673630
Disease or Syndrome
Kahrizi syndrome
MedGen UID:
382543
Concept ID:
C2675185
Disease or Syndrome
Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features.
Early infantile epileptic encephalopathy 4
MedGen UID:
436917
Concept ID:
C2677326
Disease or Syndrome
15q13.3 microdeletion syndrome
MedGen UID:
393784
Concept ID:
C2677613
Disease or Syndrome
Individuals with 15q13.3 microdeletion are at increased risk for a wide range of clinical manifestations including intellectual disability, cardiac malformations, seizures, autism, and schizophrenia; however, the deletion itself does not seem to lead to a clinically recognizable syndrome and a subset of persons with the deletion have no obvious clinical findings. Behavioral problems are common and mainly comprise poor attention span, hyperactivity, mood disorder, and aggressive and/or impulsive behavior. Intellectual disability, observed in about half of the individuals with the common deletion at 15q13.3, is usually mild but can be moderate to severe.
Christianson syndrome
MedGen UID:
394455
Concept ID:
C2678194
Disease or Syndrome
Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Carrier females may be mildly affected (summary by Schroer et al., 2010).
Temple-Baraitser syndrome
MedGen UID:
395636
Concept ID:
C2678486
Disease or Syndrome
Temple-Baraitser syndrome is a rare developmental disorder characterized by severe mental retardation and anomalies of the first ray of the upper and lower limbs with absence/hypoplasia of the nails. Most patients also have seizures; various dysmorphic facial features have been reported (summary by Jacquinet et al., 2010).
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
MedGen UID:
412914
Concept ID:
C2750234
Disease or Syndrome
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011). For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (224050).
Cerebral palsy, spastic quadriplegic, 3
MedGen UID:
442869
Concept ID:
C2752008
Disease or Syndrome
Spastic paraplegia-50 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Verkerk et al., 2009).
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
MedGen UID:
461761
Concept ID:
C3150411
Disease or Syndrome
Congenital muscular dystrophy (CMD) is a clinically and genetically heterogeneous group of inherited muscle disorders. Muscle weakness typically presents from birth to early infancy. Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. Muscle weakness may improve, worsen, or stabilize in the short term; however, with time progressive weakness and joint contractures, spinal deformities, and respiratory compromise may affect quality of life and life span. The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD). Several less known CMD subtypes have been reported in a limited number of individuals. Cognitive impairment ranging from intellectual disability to mild cognitive delay, structural brain and/or eye abnormalities, and seizures are found almost exclusively in the dystroglycanopathies while white matter abnormalities without major cognitive involvement tend to be seen in the laminin alpha-2-deficient subtype.
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1
MedGen UID:
461765
Concept ID:
C3150415
Disease or Syndrome
Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, 236670), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, 609308). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B) Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (613156), caused by mutation in the POMT2 gene (607439); MDDGB3 (613151), caused by mutation in the POMGNT1 gene (606822); MDDGB4 (613152), caused by mutation in the FKTN gene (607440); MDDGB5 (616612), caused by mutation in the FKRP gene (606596); MDDGB6 (608840), caused by mutation in the LARGE gene (603590); and MDDGB14 (615351), caused by mutation in the GMPPB gene (615320).
Early infantile epileptic encephalopathy 10
MedGen UID:
462017
Concept ID:
C3150667
Disease or Syndrome
Microcephaly, seizures, and developmental delay is an autosomal recessive neurodevelopmental disorder with onset in infancy. There is a range of phenotypic severity: some patients have a disease course consistent with early infantile epileptic encephalopathy (EIEE), whereas others have more well-controlled seizures and a protracted course associated with cerebellar atrophy and peripheral neuropathy (Shen et al., 2010 and Poulton et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350).
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
MedGen UID:
462050
Concept ID:
C3150700
Disease or Syndrome
Rett syndrome, congenital variant
MedGen UID:
462055
Concept ID:
C3150705
Disease or Syndrome
The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005).
Chromosome 14q11-q22 deletion syndrome
MedGen UID:
462057
Concept ID:
C3150707
Disease or Syndrome
Early infantile epileptic encephalopathy 5
MedGen UID:
462081
Concept ID:
C3150731
Disease or Syndrome
Mental retardation, anterior maxillary protrusion, and strabismus
MedGen UID:
462274
Concept ID:
C3150924
Disease or Syndrome
Cerebral palsy, spastic quadriplegic, 4
MedGen UID:
462406
Concept ID:
C3151056
Disease or Syndrome
Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Moreno-De-Luca et al., 2011).
Alopecia-mental retardation syndrome 3
MedGen UID:
462712
Concept ID:
C3151362
Disease or Syndrome
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)
MedGen UID:
462826
Concept ID:
C3151476
Disease or Syndrome
Mitochondrial DNA depletion syndrome-9 is a severe autosomal recessive disorder characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid. Some patients die in early infancy (summary by Rouzier et al., 2010). For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (603041).
SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE
MedGen UID:
481368
Concept ID:
C3279738
Disease or Syndrome
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE
MedGen UID:
481373
Concept ID:
C3279743
Disease or Syndrome
Keppen-Lubinsky syndrome
MedGen UID:
481430
Concept ID:
C3279800
Disease or Syndrome
Hyperphosphatasia with mental retardation syndrome 3
MedGen UID:
481783
Concept ID:
C3280153
Disease or Syndrome
Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).
Warburg micro syndrome 2
MedGen UID:
481844
Concept ID:
C3280214
Disease or Syndrome
Pitt-Hopkins-like syndrome 2
MedGen UID:
482109
Concept ID:
C3280479
Disease or Syndrome
Joubert syndrome 14
MedGen UID:
482396
Concept ID:
C3280766
Disease or Syndrome
Classic Joubert syndrome is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS) . Hypotonia. Developmental delays . Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. The designation Joubert syndrome and related disorders (JSRD) is used to describe individuals with JS who have additional findings including retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Infantile cerebellar-retinal degeneration
MedGen UID:
482822
Concept ID:
C3281192
Disease or Syndrome
Infantile cerebellar-retinal degeneration is a severe autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition of family. Brain MRI shows progressive cerebral and cerebellar degeneration (summary by Spiegel et al., 2012).
MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE
MedGen UID:
766328
Concept ID:
C3553414
Disease or Syndrome
SECKEL SYNDROME 7
MedGen UID:
766784
Concept ID:
C3553870
Disease or Syndrome
ALAZAMI SYNDROME
MedGen UID:
767353
Concept ID:
C3554439
Disease or Syndrome
BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME
MedGen UID:
815022
Concept ID:
C3808692
Disease or Syndrome
WARBURG MICRO SYNDROME 4
MedGen UID:
816595
Concept ID:
C3810265
Disease or Syndrome

Recent clinical studies

Etiology

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R
Am J Hum Genet 2014 Nov 6;95(5):602-10. Epub 2014 Oct 30 doi: 10.1016/j.ajhg.2014.10.003. [Epub ahead of print] PMID: 25439727Free PMC Article
McDermott S, Bao W, Tong X, Cai B, Lawson A, Aelion CM
Dev Med Child Neurol 2014 Sep;56(9):888-97. Epub 2014 Apr 19 doi: 10.1111/dmcn.12442. [Epub ahead of print] PMID: 24750016Free PMC Article
Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ
Brain 2014 Apr;137(Pt 4):1030-8. Epub 2014 Feb 24 doi: 10.1093/brain/awu019. [Epub ahead of print] PMID: 24566669
Medina A, Piñeros L, Arteaga C, Velasco H, Izquierdo A, Giraldo A, Espinosa E
Pediatr Neurol 2014 Mar;50(3):250-4. Epub 2013 Oct 30 doi: 10.1016/j.pediatrneurol.2013.10.017. [Epub ahead of print] PMID: 24412240
van Bakel M, Einarsson I, Arnaud C, Craig S, Michelsen SI, Pildava S, Uldall P, Cans C
Dev Med Child Neurol 2014 Apr;56(4):361-9. Epub 2013 Oct 5 doi: 10.1111/dmcn.12281. [Epub ahead of print] PMID: 24116829

Diagnosis

McDermott S, Bao W, Tong X, Cai B, Lawson A, Aelion CM
Dev Med Child Neurol 2014 Sep;56(9):888-97. Epub 2014 Apr 19 doi: 10.1111/dmcn.12442. [Epub ahead of print] PMID: 24750016Free PMC Article
Baasch AL, Hüning I, Gilissen C, Klepper J, Veltman JA, Gillessen-Kaesbach G, Hoischen A, Lohmann K
Epilepsia 2014 Apr;55(4):e25-9. Epub 2014 Mar 1 doi: 10.1111/epi.12554. [Epub ahead of print] PMID: 24579881
Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ
Brain 2014 Apr;137(Pt 4):1030-8. Epub 2014 Feb 24 doi: 10.1093/brain/awu019. [Epub ahead of print] PMID: 24566669
Medina A, Piñeros L, Arteaga C, Velasco H, Izquierdo A, Giraldo A, Espinosa E
Pediatr Neurol 2014 Mar;50(3):250-4. Epub 2013 Oct 30 doi: 10.1016/j.pediatrneurol.2013.10.017. [Epub ahead of print] PMID: 24412240
van Bakel M, Einarsson I, Arnaud C, Craig S, Michelsen SI, Pildava S, Uldall P, Cans C
Dev Med Child Neurol 2014 Apr;56(4):361-9. Epub 2013 Oct 5 doi: 10.1111/dmcn.12281. [Epub ahead of print] PMID: 24116829

Therapy

Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G
Hum Genet 2014 Nov;133(11):1359-67. Epub 2014 Jul 19 doi: 10.1007/s00439-014-1469-6. [Epub ahead of print] PMID: 25037250
Carretero N, Luciano JV
Disabil Health J 2013 Oct;6(4):405-9. Epub 2013 Jun 4 doi: 10.1016/j.dhjo.2013.04.002. [Epub ahead of print] PMID: 24060265
de Kuijper G, Mulder H, Evenhuis H, Scholte F, Visser F, Hoekstra PJ
Res Dev Disabil 2013 Sep;34(9):2799-809. Epub 2013 Jun 20 doi: 10.1016/j.ridd.2013.05.016. [Epub ahead of print] PMID: 23792429
Zaal RJ, van der Kaaij AD, Evenhuis HM, van den Bemt PM
Res Dev Disabil 2013 May;34(5):1656-62. Epub 2013 Mar 15 doi: 10.1016/j.ridd.2013.02.005. [Epub ahead of print] PMID: 23501585
Simonoff E, Taylor E, Baird G, Bernard S, Chadwick O, Liang H, Whitwell S, Riemer K, Sharma K, Sharma SP, Wood N, Kelly J, Golaszewski A, Kennedy J, Rodney L, West N, Walwyn R, Jichi F
J Child Psychol Psychiatry 2013 May;54(5):527-35. Epub 2012 Jun 7 doi: 10.1111/j.1469-7610.2012.02569.x. [Epub ahead of print] PMID: 22676856

Prognosis

McDermott S, Bao W, Tong X, Cai B, Lawson A, Aelion CM
Dev Med Child Neurol 2014 Sep;56(9):888-97. Epub 2014 Apr 19 doi: 10.1111/dmcn.12442. [Epub ahead of print] PMID: 24750016Free PMC Article
Medina A, Piñeros L, Arteaga C, Velasco H, Izquierdo A, Giraldo A, Espinosa E
Pediatr Neurol 2014 Mar;50(3):250-4. Epub 2013 Oct 30 doi: 10.1016/j.pediatrneurol.2013.10.017. [Epub ahead of print] PMID: 24412240
Cheung EN, George SR, Andrade DM, Chow EW, Silversides CK, Bassett AS
Genet Med 2014 Jan;16(1):40-4. Epub 2013 Jun 13 doi: 10.1038/gim.2013.71. [Epub ahead of print] PMID: 23765047
Bouck EC
J Intellect Disabil Res 2014 Jun;58(6):534-48. Epub 2013 May 9 doi: 10.1111/jir.12051. [Epub ahead of print] PMID: 23656346
de Kuijper G, Mulder H, Evenhuis H, Scholte F, Visser F, Hoekstra PJ
Res Dev Disabil 2013 Sep;34(9):2799-809. Epub 2013 Jun 20 doi: 10.1016/j.ridd.2013.05.016. [Epub ahead of print] PMID: 23792429

Clinical prediction guides

Buchert R, Tawamie H, Smith C, Uebe S, Innes AM, Al Hallak B, Ekici AB, Sticht H, Schwarze B, Lamont RE, Parboosingh JS, Bernier FP, Abou Jamra R
Am J Hum Genet 2014 Nov 6;95(5):602-10. Epub 2014 Oct 30 doi: 10.1016/j.ajhg.2014.10.003. [Epub ahead of print] PMID: 25439727Free PMC Article
McDermott S, Bao W, Tong X, Cai B, Lawson A, Aelion CM
Dev Med Child Neurol 2014 Sep;56(9):888-97. Epub 2014 Apr 19 doi: 10.1111/dmcn.12442. [Epub ahead of print] PMID: 24750016Free PMC Article
Vinkler C, Leshinsky-Silver E, Michelson M, Haas D, Lerman-Sagie T, Lev D
Eur J Med Genet 2014 May-Jun;57(6):288-92. Epub 2014 Apr 5 doi: 10.1016/j.ejmg.2014.03.010. [Epub ahead of print] PMID: 24709618
Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Grønborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ
Brain 2014 Apr;137(Pt 4):1030-8. Epub 2014 Feb 24 doi: 10.1093/brain/awu019. [Epub ahead of print] PMID: 24566669
Medina A, Piñeros L, Arteaga C, Velasco H, Izquierdo A, Giraldo A, Espinosa E
Pediatr Neurol 2014 Mar;50(3):250-4. Epub 2013 Oct 30 doi: 10.1016/j.pediatrneurol.2013.10.017. [Epub ahead of print] PMID: 24412240

Recent systematic reviews

Houwen S, van der Putten A, Vlaskamp C
Res Dev Disabil 2014 Sep;35(9):2093-116. Epub 2014 May 28 doi: 10.1016/j.ridd.2014.05.006. [Epub ahead of print] PMID: 24878631
Rana F, Gormez A, Varghese S
Cochrane Database Syst Rev 2013 Apr 30;4:CD009084. doi: 10.1002/14651858.CD009084.pub2. PMID: 23633366
Marangi G, Leuzzi V, Manti F, Lattante S, Orteschi D, Pecile V, Neri G, Zollino M
Eur J Hum Genet 2013 Feb;21(2):229-32. Epub 2012 May 2 doi: 10.1038/ejhg.2012.79. [Epub ahead of print] PMID: 22549410Free PMC Article
Paton C, Flynn A, Shingleton-Smith A, McIntyre S, Bhaumik S, Rasmussen J, Hardy S, Barnes T
J Intellect Disabil Res 2011 Jul;55(7):665-74. Epub 2011 Apr 21 doi: 10.1111/j.1365-2788.2011.01421.x. [Epub ahead of print] PMID: 21507097
de Kuijper G, Hoekstra P, Visser F, Scholte FA, Penning C, Evenhuis H
J Intellect Disabil Res 2010 Jul;54(7):659-67. Epub 2010 Apr 20 doi: 10.1111/j.1365-2788.2010.01275.x. [Epub ahead of print] PMID: 20426795

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