CHLA Center for Personalized Medicine (Children's Hospital, Los Angeles), CPM

General information

CHLA Center for Personalized Medicine, CPM
Children's Hospital, Los Angeles
4650 Sunset Blvd.m
Los Angeles
California
United States - 90027
http://www.chla.org/center-personalized-medicine
Organization ID: 506200

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 152

Gene

GeneSubmissionsLast Updated
ABCA33Nov 19, 2018
ADAR2Nov 19, 2018
AHI11Nov 19, 2018
ALG131Nov 19, 2018
ALPL2Sep 22, 2017
AP1B11Nov 19, 2018
ARFGEF11Nov 19, 2018
ARID1B1Nov 19, 2018
ATRX1Nov 19, 2018
BCL11A1Nov 19, 2018
BCORL11Nov 19, 2018
BMPR21Nov 19, 2018
BPTF1Nov 19, 2018
BRCA21Nov 19, 2018
C2CD31Nov 19, 2018
CACNA1A2Nov 19, 2018
CASR1Nov 19, 2018
CCDC651Nov 19, 2018
CEL1Nov 19, 2018
CHEK21Nov 19, 2018
CHN11Nov 19, 2018
CIITA1Nov 19, 2018
CLCN21Nov 19, 2018
COL17A11Nov 19, 2018
COL1A12Sep 22, 2017
COL2A11Sep 22, 2017
COL5A21Nov 19, 2018
COL6A21Nov 19, 2018
COL6A31Nov 19, 2018
CPT21Nov 19, 2018
CREBBP1Nov 19, 2018
CSPP11Nov 19, 2018
DCC1Nov 19, 2018
DCHS13Dec 20, 2018
DEPDC51Nov 19, 2018
DES1Nov 19, 2018
DNAH111Nov 19, 2018
DNAH51Nov 19, 2018
DNAJC211Nov 19, 2018
DNMT11Nov 19, 2018
DPYD1Nov 19, 2018
DYNC2H11Nov 19, 2018
EEF1A21Apr 10, 2020
EIF2B51Nov 19, 2018
ERF1Nov 19, 2018
FAM111B1Nov 19, 2018
FAT42Dec 20, 2018
FGF141Nov 19, 2018
FKBP101Nov 19, 2018
FLNA1Nov 19, 2018
FOXN11Nov 19, 2018
FOXP21Nov 19, 2018
FOXP31Feb 2, 2021
GABRB31Nov 19, 2018
GATA41Nov 19, 2018
GJB21Nov 19, 2018
GNS1Nov 19, 2018
GRIN11Nov 19, 2018
HERC21Nov 19, 2018
HYDIN2Nov 19, 2018
IDS1Nov 19, 2018
IGHMBP21Sep 22, 2017
INPP5E1Nov 19, 2018
JAK31Nov 19, 2018
KCNQ11Nov 19, 2018
KIF1A1Nov 19, 2018
LDLR1Dec 20, 2018
LOC1027240583Dec 20, 2018
LOC1053715661Dec 20, 2018
MED251Nov 19, 2018
MEFV3Nov 19, 2018
MEN11Dec 20, 2018
MLH11Sep 22, 2017
MTM11Nov 19, 2018
MYH71Nov 19, 2018
MYH81Nov 19, 2018
MYHAS1Nov 19, 2018
MYLK1Dec 20, 2018
MYO15A1Dec 20, 2018
MYOC1Nov 19, 2018
NEK12Nov 19, 2018
NF11Sep 22, 2017
NR2F11Nov 19, 2018
NSD11Nov 19, 2018
OBSL12Nov 19, 2018
PACS11Nov 19, 2018
PAX81Nov 19, 2018
PCDH191Nov 19, 2018
PGAP31Nov 19, 2018
PIK3R21Sep 22, 2017
PKHD11Nov 19, 2018
PLAA1Nov 19, 2018
PMS21Nov 19, 2018
POLG1Nov 19, 2018
PPP2R1A1Nov 19, 2018
PTEN1Nov 19, 2018
QARS12Nov 19, 2018
RAC21Nov 19, 2018
RAG21Sep 22, 2017
RPS261Nov 19, 2018
RYR13Dec 20, 2018
SCN1A3Dec 20, 2018
SCN5A1Sep 22, 2017
SCNN1A1Nov 19, 2018
SF3B41Sep 22, 2017
SFTPC1Nov 19, 2018
SLC12A11Nov 19, 2018
SLC9A61Nov 19, 2018
SMARCB11Sep 22, 2017
SOX32Nov 19, 2018
STAT13Nov 19, 2018
SYNE21Nov 19, 2018
SZT22Nov 19, 2018
TCOF11Sep 22, 2017
TMCO12Nov 19, 2018
TNFRSF13B2Nov 19, 2018
TNNT31Nov 19, 2018
TP532Nov 19, 2018
TRH1Nov 19, 2018
TRPM41Dec 20, 2018
TTN1Mar 23, 2018
TTN-AS11Mar 23, 2018
TTR1Feb 2, 2021
USH2A2Nov 19, 2018
USH2A-AS21Nov 19, 2018
USP72Nov 19, 2018
VANGL11Nov 19, 2018
WFS11Nov 19, 2018
XDH2Nov 19, 2018

Condition

NameSubmissionsLast Updated
2-3 toe syndactyly3Nov 19, 2018
Abdominal distention2Nov 19, 2018
Abnormal aggressive, impulsive or violent behavior2Nov 19, 2018
Abnormal basal ganglia MRI signal intensity2Nov 19, 2018
Abnormal blistering of the skin1Nov 19, 2018
Abnormal brainstem MRI signal intensity2Nov 19, 2018
Abnormal facial shape2Nov 19, 2018
Abnormal morphology of bones of the upper limbs3Nov 19, 2018
Abnormal thalamic MRI signal intensity2Nov 19, 2018
Abnormality of T cell physiology4Nov 19, 2018
Abnormality of cellular immune system3Nov 19, 2018
Abnormality of female external genitalia2Nov 19, 2018
Abnormality of neuronal migration1Nov 19, 2018
Abnormality of skin morphology1Nov 19, 2018
Abnormality of the anterior fontanelle4Nov 19, 2018
Abnormality of the basal ganglia3Nov 19, 2018
Abnormality of the cerebral white matter14Dec 20, 2018
Abnormality of the cervical spine3Nov 19, 2018
Abnormality of the corpus callosum6Dec 20, 2018
Abnormality of the dentition1Nov 19, 2018
Abnormality of the diaphragm3Nov 19, 2018
Abnormality of the dorsal column of the spinal cord1Nov 19, 2018
Abnormality of the globus pallidus3Nov 19, 2018
Abnormality of the nares2Nov 19, 2018
Abnormality of the pinna1Nov 19, 2018
Abnormality of the renal pelvis3Dec 20, 2018
Abnormality of the skin1Nov 19, 2018
Abnormality of the sternum2Nov 19, 2018
Abnormality of the substantia nigra1Nov 19, 2018
Abnormality of the tongue3Nov 19, 2018
Abnormality of the upper limb3Nov 19, 2018
Abnormality of the vertebral column4Nov 19, 2018
Abnormality of upper limb joint3Nov 19, 2018
Absent epiphyses3Nov 19, 2018
Accessory oral frenulum1Nov 19, 2018
Acute myeloid leukemia3Nov 19, 2018
Agenesis of maxillary lateral incisor3Dec 20, 2018
Aggressive behavior2Nov 19, 2018
Ambiguous genitalia1Nov 19, 2018
Anemia2Feb 2, 2021
Anomalous origin of coronary artery from the pulmonary artery3Nov 19, 2018
Anonychia1Nov 19, 2018
Anxiety4Nov 19, 2018
Aortic dissection2Dec 20, 2018
Aortic root dilatation1Nov 19, 2018
Aplasia cutis congenita (disease)1Nov 19, 2018
Aplasia of the thymus1Nov 19, 2018
Aplasia/Hypoplasia of the nails1Nov 19, 2018
Aplastic/hypoplastic toenail1Nov 19, 2018
Aqueductal stenosis2Sep 22, 2017
Arachnodactyly3Nov 19, 2018
Arrhythmia1Sep 22, 2017
Arthritis1Nov 19, 2018
Ascites2Dec 20, 2018
Asthma1Nov 19, 2018
Asymmetry of the thorax2Nov 19, 2018
Atrial septal defect7Dec 20, 2018
Attention deficit hyperactivity disorder2Nov 19, 2018
Autistic behavior6Nov 19, 2018
Autistic disorder of childhood onset10Nov 19, 2018
Autoimmunity1Nov 19, 2018
Autosomal dominant inheritance1Nov 19, 2018
Axillary freckling1Sep 22, 2017
Bicoronal synostosis3Dec 20, 2018
Bifid ribs2Nov 19, 2018
Bilateral basal ganglia lesions1Nov 19, 2018
Bilateral cleft lip2Nov 19, 2018
Bilateral cleft lip and palate2Nov 19, 2018
Bilateral cleft palate2Nov 19, 2018
Bilateral single transverse palmar creases3Dec 20, 2018
Blepharitis1Nov 19, 2018
Blue sclerae1Sep 22, 2017
Bone marrow hypocellularity6Feb 2, 2021
Brachycephaly2Nov 19, 2018
Brachydactyly2Nov 19, 2018
Bradycardia1Dec 20, 2018
Brisk reflexes3Nov 19, 2018
Broad forehead1Nov 19, 2018
Broad-based gait5Nov 19, 2018
Bronchiectasis2Nov 19, 2018
Bronchomalacia3Dec 20, 2018
Bulbous nose2Nov 19, 2018
Cafe-au-lait spot4Nov 19, 2018
Capillary hemangiomas1Nov 19, 2018
Cardiomyopathy2Nov 19, 2018
Carotid artery dissection2Dec 20, 2018
Carotid artery occlusion2Dec 20, 2018
Cataract (disease)2Nov 19, 2018
Central hypotonia6Nov 19, 2018
Cerebellar vermis hypoplasia5Nov 19, 2018
Cerebral venous thrombosis2Nov 19, 2018
Cerebral white matter atrophy2Nov 19, 2018
Cerebral white matter hypoplasia1Nov 19, 2018
Chorea5Nov 19, 2018
Choreoathetosis4Nov 19, 2018
Chronic constipation1Nov 19, 2018
Chronic diarrhea2Nov 19, 2018
Chronic gastritis1Nov 19, 2018
Chronic kidney disease1Nov 19, 2018
Chronic lung disease5Nov 19, 2018
Chronic mucocutaneous candidiasis1Nov 19, 2018
Chronic oral candidiasis2Nov 19, 2018
Chronic pain4Nov 19, 2018
Chylothorax2Dec 20, 2018
Cleft palate15Dec 20, 2018
Cleft upper lip2Nov 19, 2018
Cleft uvula2Nov 19, 2018
Clinodactyly of the 5th finger8Dec 20, 2018
Clinodactyly of the 5th toe2Nov 19, 2018
Clonus1Sep 22, 2017
Clubfoot3Nov 19, 2018
Coarctation of aorta3Dec 20, 2018
Coarse facial features2Nov 19, 2018
Coat hanger sign of ribs3Nov 19, 2018
Cognitive impairment18Nov 19, 2018
Colitis3Nov 19, 2018
Colpocephaly1Nov 19, 2018
Combined T and B cell immunodeficiency9Nov 19, 2018
Complete duplication of proximal phalanx of the thumb2Nov 19, 2018
Congenital diaphragmatic hernia3Dec 20, 2018
Congenital microcephaly4Nov 19, 2018
Congenital muscular dystrophy1Mar 23, 2018
Congenital peripheral neuropathy2Nov 19, 2018
Congenital ptosis2Nov 19, 2018
Congenital talipes calcaneovalgus1Nov 19, 2018
Constipation1Nov 19, 2018
Cor triatriatum dexter2Nov 19, 2018
Corpus callosum, agenesis of1Nov 19, 2018
Cortical visual impairment6Dec 20, 2018
Cough5Nov 19, 2018
Crescentic glomerulonephritis1Nov 19, 2018
Crouzon syndrome1Sep 22, 2017
Cryptorchidism9Nov 19, 2018
Dandy-Walker syndrome3Nov 19, 2018
Death in childhood1Nov 19, 2018
Decreased body weight3Nov 19, 2018
Decreased fetal movement2Nov 19, 2018
Deep plantar creases4Nov 19, 2018
Deeply set eye1Nov 19, 2018
Delayed eruption of primary teeth2Nov 19, 2018
Delayed gross motor development5Dec 20, 2018
Delayed speech and language development10Dec 20, 2018
Dental malocclusion1Nov 19, 2018
Dentinogenesis imperfecta1Sep 22, 2017
Developmental regression3Dec 20, 2018
Diabetes mellitus1Nov 19, 2018
Diabetes mellitus type 11Nov 19, 2018
Diaphragmatic eventration3Nov 19, 2018
Diffuse white matter abnormalities2Nov 19, 2018
Discolored lateral incisors1Nov 19, 2018
Dislocated radial head3Nov 19, 2018
Disproportionate tall stature2Nov 19, 2018
Distal arthrogryposis4Nov 19, 2018
Distal muscle weakness1Mar 23, 2018
Downslanted palpebral fissures1Nov 19, 2018
Downturned corners of mouth3Nov 19, 2018
Duane anomaly3Nov 19, 2018
Dysautonomia4Nov 19, 2018
Dysphagia1Nov 19, 2018
Dystonia4Dec 20, 2018
Ectopic ossification2Nov 19, 2018
Ectrodactyly1Nov 19, 2018
Eczema3Nov 19, 2018
Elevated serum creatine phosphokinase2Nov 19, 2018
Enlarged naris2Nov 19, 2018
Epileptic encephalopathy2Dec 20, 2018
Epileptic encephalopathy, early infantile, 331Apr 10, 2020
Esotropia1Nov 19, 2018
Exotropia1Nov 19, 2018
Expressive language delay2Nov 19, 2018
Facial hypotonia1Nov 19, 2018
Failure to thrive9Dec 20, 2018
Familial predisposition1Sep 22, 2017
Febrile seizures2Nov 19, 2018
Feeding difficulties3Nov 19, 2018
Focal white matter lesions1Nov 19, 2018
Frontal bossing7Nov 19, 2018
Gastritis1Nov 19, 2018
Gastroesophageal reflux2Nov 19, 2018
Gastrointestinal dysmotility1Nov 19, 2018
Gastrointestinal obstruction2Nov 19, 2018
Generalized abnormality of skin1Nov 19, 2018
Generalized hypotonia32Dec 20, 2018
Generalized neonatal hypotonia2Nov 19, 2018
Glaucoma2Nov 19, 2018
Gliosis1Nov 19, 2018
Global developmental delay39Dec 20, 2018
Glomerulonephritis (disease)1Nov 19, 2018
Gowers sign1Mar 23, 2018
Gray matter heterotopias1Nov 19, 2018
Growth delay1Nov 19, 2018
Hallux valgus2Nov 19, 2018
Hamartoma of tongue1Nov 19, 2018
Headache1Nov 19, 2018
Heart block3Dec 20, 2018
Heart murmur1Mar 23, 2018
Hematochezia3Nov 19, 2018
Hemimegalencephaly1Nov 19, 2018
Hemivertebrae5Nov 19, 2018
Heterotopia2Nov 19, 2018
High forehead2Nov 19, 2018
High palate7Nov 19, 2018
Highly arched eyebrow2Nov 19, 2018
Horseshoe kidney1Nov 19, 2018
Hydronephrosis7Nov 19, 2018
Hydrops fetalis2Dec 20, 2018
Hydroureter3Nov 19, 2018
Hyperkeratotic papule1Nov 19, 2018
Hypermelanotic macule1Nov 19, 2018
Hypermetropia2Nov 19, 2018
Hyperpigmented/hypopigmented macules1Nov 19, 2018
Hyperreflexia1Sep 22, 2017
Hypertelorism3Nov 19, 2018
Hypertonia2Nov 19, 2018
Hypopigmented skin patches3Dec 20, 2018
Hypoplasia of proximal radius1Nov 19, 2018
Hypoplasia of the corpus callosum6Dec 20, 2018
Hypoplastic female external genitalia2Nov 19, 2018
Hypoplastic toenails1Nov 19, 2018
Hypotelorism1Nov 19, 2018
Hypothyroidism4Nov 19, 2018
Hypoxemia1Dec 20, 2018
Hypsarrhythmia3Dec 20, 2018
Immunodeficiency10Nov 19, 2018
Impaired distal proprioception3Nov 19, 2018
Impaired use of nonverbal behaviors5Nov 19, 2018
Inability to walk1Nov 19, 2018
Inappropriate sinus tachycardia1Nov 19, 2018
Infantile axial hypotonia5Dec 20, 2018
Infantile spasms5Dec 20, 2018
Inflammation of the large intestine3Nov 19, 2018
Inguinal freckling1Sep 22, 2017
Inguinal hernia1Sep 22, 2017
Insomnia2Nov 19, 2018
Intellectual disability3Nov 19, 2018
Intellectual disability, profound2Nov 19, 2018
Intellectual disability, severe1Nov 19, 2018
Intermittent thrombocytopenia1Nov 19, 2018
Internal carotid artery dissection2Dec 20, 2018
Interstitial pulmonary abnormality7Nov 19, 2018
Intestinal obstruction2Nov 19, 2018
Intrauterine growth retardation2Nov 19, 2018
Involuntary movements2Nov 19, 2018
Irregular dentition1Nov 19, 2018
Irregular hyperpigmentation1Nov 19, 2018
Joint contracture of the hand1Nov 19, 2018
Joint hypermobility4Dec 20, 2018
Joint laxity3Nov 19, 2018
Kyphosis2Nov 19, 2018
Laryngomalacia3Nov 19, 2018
Leukodystrophy2Dec 20, 2018
Li-Fraumeni syndrome 11Mar 16, 2018
Limb-girdle muscle weakness2Nov 19, 2018
Liver abscess1Nov 19, 2018
Long fingers1Nov 19, 2018
Long toe1Nov 19, 2018
Low posterior hairline3Dec 20, 2018
Low-set ears3Dec 20, 2018
Low-set nipples2Dec 20, 2018
Lymphadenopathy1Nov 19, 2018
Lymphopenia6Nov 19, 2018
Lymphoproliferative disorder1Nov 19, 2018
Macrocephalus8Nov 19, 2018
Macroglossia2Nov 19, 2018
Malar flattening1Sep 22, 2017
Mandibular prognathia2Nov 19, 2018
Median cleft lip3Nov 19, 2018
Megalencephaly1Nov 19, 2018
Microcephaly11Nov 19, 2018
Microglossia3Nov 19, 2018
Micrognathia10Nov 19, 2018
Midface retrusion3Nov 19, 2018
Migraine1Nov 19, 2018
Mild global developmental delay1Nov 19, 2018
Mild microcephaly2Dec 20, 2018
Mitral valve prolapse1Nov 19, 2018
Moderate global developmental delay3Nov 19, 2018
Motor delay1Nov 19, 2018
Multiple joint contractures3Nov 19, 2018
Muscle weakness5Nov 19, 2018
Myelitis2Nov 19, 2018
Myopathy2Nov 19, 2018
Myositis1Nov 19, 2018
Nail dystrophy1Nov 19, 2018
Neonatal hypotonia8Dec 20, 2018
Neonatal respiratory distress5Nov 19, 2018
Neoplasm of the central nervous system1Sep 22, 2017
Nephrolithiasis1Nov 19, 2018
Neurogenic bladder2Nov 19, 2018
Neutropenia2Nov 19, 2018
Non-immune hydrops fetalis1Nov 19, 2018
Numerous nevi1Nov 19, 2018
Nyctalopia3Nov 19, 2018
Nystagmus1Nov 19, 2018
Obesity4Nov 19, 2018
Obstructive sleep apnea syndrome2Nov 19, 2018
Oculomotor apraxia4Nov 19, 2018
Onychomycosis1Nov 19, 2018
Optic disc pallor1Nov 19, 2018
Oral cleft1Nov 19, 2018
Orofacial dyskinesia2Nov 19, 2018
Osteopenia1Nov 19, 2018
Osteosarcoma1Nov 19, 2018
Overfolding of the superior helices2Nov 19, 2018
Pancytopenia6Feb 2, 2021
Panhypopituitarism2Nov 19, 2018
Paroxysmal choreoathetosis2Nov 19, 2018
Paroxysmal dyskinesia2Nov 19, 2018
Patent ductus arteriosus5Nov 19, 2018
Patent foramen ovale3Dec 20, 2018
Pectus carinatum4Nov 19, 2018
Pectus excavatum4Nov 19, 2018
Periventricular gray matter heterotopia4Dec 20, 2018
Periventricular leukomalacia2Nov 19, 2018
Plagiocephaly2Dec 20, 2018
Pleural effusion2Dec 20, 2018
Polyarticular arthritis1Nov 19, 2018
Polycystic kidney disease1Nov 19, 2018
Polyhydramnios2Nov 19, 2018
Polymicrogyria2Nov 19, 2018
Polyphagia1Nov 19, 2018
Posterior plagiocephaly2Dec 20, 2018
Postnatal microcephaly5Dec 20, 2018
Preauricular pit1Nov 19, 2018
Preaxial foot polydactyly3Nov 19, 2018
Premature birth1Nov 19, 2018
Primary hypothyroidism1Nov 19, 2018
Profound global developmental delay10Dec 20, 2018
Prominent fingertip pads1Nov 19, 2018
Prominent supraorbital ridges2Nov 19, 2018
Protein-losing enteropathy (disease)2Nov 19, 2018
Protruding tongue1Nov 19, 2018
Proximal muscle weakness2Nov 19, 2018
Proximal muscle weakness in upper limbs2Nov 19, 2018
Proximal placement of thumb1Nov 19, 2018
Pseudoarthrosis3Nov 19, 2018
Pterygium of nails2Nov 19, 2018
Ptosis1Sep 22, 2017
Pulmonary alveolar proteinosis2Nov 19, 2018
Pulmonary arterial hypertension7Nov 19, 2018
Pulmonary hypoplasia2Nov 19, 2018
Pulmonary insufficiency2Nov 19, 2018
Pulmonic stenosis (disease)2Nov 19, 2018
Punctate palmoplantar hyperkeratosis1Nov 19, 2018
Recurrent Staphylococcus aureus infections1Nov 19, 2018
Recurrent bacterial skin infections1Nov 19, 2018
Recurrent candida infections1Nov 19, 2018
Recurrent fractures3Nov 19, 2018
Recurrent fungal infections1Nov 19, 2018
Recurrent infections1Nov 19, 2018
Recurrent skin infections1Nov 19, 2018
Relative macrocephaly9Dec 20, 2018
Renal agenesis2Nov 19, 2018
Respiratory distress6Nov 19, 2018
Respiratory failure5Nov 19, 2018
Respiratory failure requiring assisted ventilation4Nov 19, 2018
Respiratory insufficiency2Nov 19, 2018
Respiratory insufficiency due to muscle weakness2Nov 19, 2018
Restrictive ventilatory defect2Nov 19, 2018
Rhabdomyolysis2Nov 19, 2018
Rib fusion2Nov 19, 2018
Right ventricular hypertrophy2Dec 20, 2018
Robin sequence1Nov 19, 2018
Sagittal craniosynostosis3Dec 20, 2018
Scoliosis5Nov 19, 2018
Seizures27Dec 20, 2018
Sensorineural hearing loss5Nov 19, 2018
Sensory ataxia5Nov 19, 2018
Sensory ataxic neuropathy3Nov 19, 2018
Sensory neuropathy3Nov 19, 2018
Severe T-cell immunodeficiency3Nov 19, 2018
Severe combined immunodeficiency disease3Nov 19, 2018
Severe global developmental delay3Dec 20, 2018
Severe muscular hypotonia2Mar 23, 2018
Severe visual impairment2Nov 19, 2018
Short attention span1Nov 19, 2018
Short femur3Nov 19, 2018
Short foot2Nov 19, 2018
Short stature13Nov 19, 2018
Short toe2Nov 19, 2018
Shortening of all phalanges of fingers2Nov 19, 2018
Single transverse palmar crease1Nov 19, 2018
Sinus tachycardia1Nov 19, 2018
Skeletal dysplasia7Nov 19, 2018
Skeletal muscle atrophy1Nov 19, 2018
Skeletal myopathy2Nov 19, 2018
Sleep disturbance2Nov 19, 2018
Slit-like opening of the exterior auditory meatus2Nov 19, 2018
Small hand5Nov 19, 2018
Small nail1Nov 19, 2018
Sparse scalp hair1Nov 19, 2018
Spastic gait2Nov 19, 2018
Spasticity2Nov 19, 2018
Specific learning disability5Nov 19, 2018
Speech apraxia1Nov 19, 2018
Split foot1Nov 19, 2018
Split hand1Nov 19, 2018
Stenosis of the external auditory canal1Sep 22, 2017
Stereotypy3Nov 19, 2018
Strabismus4Nov 19, 2018
Striae distensae1Nov 19, 2018
Stroke2Dec 20, 2018
Sudden death1Nov 19, 2018
Synophrys2Nov 19, 2018
Tachycardia1Dec 20, 2018
Tachypnea1Sep 22, 2017
Talipes valgus2Nov 19, 2018
Thick lower lip vermilion2Nov 19, 2018
Thin upper lip vermilion2Nov 19, 2018
Thoracic scoliosis2Nov 19, 2018
Thrombocytopenia5Nov 19, 2018
Thyroiditis1Nov 19, 2018
Toe clinodactyly2Nov 19, 2018
Tongue tie3Dec 20, 2018
Torticollis1Nov 19, 2018
Treacher Collins syndrome1Sep 22, 2017
Trichiasis1Nov 19, 2018
Unilateral polymicrogyria1Nov 19, 2018
Unilateral renal agenesis2Nov 19, 2018
Urachal cyst (disease)2Nov 19, 2018
Ventricular septal defect5Dec 20, 2018
Vertebral hypoplasia3Nov 19, 2018
Vertebral segmentation defect3Nov 19, 2018
Visual impairment2Dec 20, 2018
Webbed neck3Nov 19, 2018
Wide intermamillary distance3Dec 20, 2018
Widely spaced teeth2Nov 19, 2018
X-linked dominant inheritance1Nov 19, 2018
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