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Items: 1 to 20 of 6305

1.

Lacosamide response

MedGen UID:
1437479
Concept ID:
CN781942
Sign or Symptom
2.

Nephronophthisis 20

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (256100). [from OMIM]

MedGen UID:
1435921
Concept ID:
CN781300
Disease or Syndrome
3.

Brivaracetam response

MedGen UID:
1435685
Concept ID:
CN781941
Sign or Symptom
4.

AMYOTROPHIC LATERAL SCLEROSIS 23

MedGen UID:
1433467
Concept ID:
CN778765
Disease or Syndrome
5.

DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017). [from OMIM]

MedGen UID:
1422442
Concept ID:
CN769090
Disease or Syndrome
6.

MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES

MedGen UID:
1415009
Concept ID:
CN757796
Disease or Syndrome
7.

EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2

IECEE2 is a neurodevelopmental disorder characterized in most patients by onset of seizures in infancy or childhood and associated with global developmental delay and variable intellectual disability. The seizure type and severity varies, and seizures may be intractable in some patients. Some patients are severely affected, unable to walk or speak, whereas others show some development. Additional neurologic features, including cortical blindness, dystonia, and spasticity, may occur. Mutations occur de novo (summary by Hamdan et al., 2017). For a discussion of genetic heterogeneity of IECEE, see IECEE1 (617711). [from OMIM]

MedGen UID:
1414864
Concept ID:
CN757794
Disease or Syndrome
8.

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58

EIEE58 is a severe neurodevelopmental disorder characterized by onset of refractory seizures in the first days or months of life. Affected individuals have global developmental delay with intellectual disability, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, and spasticity (summary by Hamdan et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). [from OMIM]

MedGen UID:
1414614
Concept ID:
CN757795
Disease or Syndrome
9.

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE

NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016). [from OMIM]

MedGen UID:
1395847
Concept ID:
CN737161
Disease or Syndrome
10.

ALKURAYA-KUCINSKAS SYNDROME

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018). [from OMIM]

MedGen UID:
1395809
Concept ID:
CN737163
Disease or Syndrome
11.

IMMUNODEFICIENCY 55

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017). [from OMIM]

MedGen UID:
1394597
Concept ID:
CN737162
Disease or Syndrome
12.

GLUCOCORTICOID DEFICIENCY 5

Familial glucocorticoid deficiency-5 is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation (Prasad et al., 2014). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from OMIM]

MedGen UID:
1346960
Concept ID:
CN708879
Disease or Syndrome
13.

MYOPIA 26, X-LINKED, FEMALE-LIMITED

X-linked myopia-26 is characterized by female-limited early-onset high myopia. The fundus of affected individuals shows a tigroid appearance, and there is a temporal crescent of the optic nerve head (Xiao et al., 2016). For a discussion of genetic heterogeneity of myopia, see 160700. [from OMIM]

MedGen UID:
1346359
Concept ID:
CN708878
Disease or Syndrome
14.

EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2

Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see 130060. [from OMIM]

MedGen UID:
1344551
Concept ID:
CN706304
Disease or Syndrome
15.

RENAL HYPODYSPLASIA/APLASIA 3

RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see 610805) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830). [from OMIM]

MedGen UID:
1341890
Concept ID:
CN703737
Disease or Syndrome
16.

NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE

NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017). [from OMIM]

MedGen UID:
1340588
Concept ID:
CN703736
Disease or Syndrome
17.

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16

MedGen UID:
1340388
Concept ID:
CN703738
Disease or Syndrome
18.

NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017). [from OMIM]

MedGen UID:
1340097
Concept ID:
CN698604
Disease or Syndrome
19.

GELEOPHYSIC DYSPLASIA 3

MedGen UID:
1339138
Concept ID:
CN696019
Disease or Syndrome
20.

COFFIN-SIRIS SYNDROME 6

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). [from OMIM]

MedGen UID:
1338942
Concept ID:
CN696018
Disease or Syndrome
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