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

General information

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: 280

Gene

GeneSubmissionsLast Updated
ABCA36Mar 22, 2023
ACTA11Mar 22, 2023
ADAR2Nov 19, 2018
AHDC11Mar 22, 2023
AHI11Nov 19, 2018
ALG132Mar 22, 2023
ALPL2Sep 22, 2017
ANK21Mar 22, 2023
AP1B11Nov 19, 2018
ARFGEF11Nov 19, 2018
ARID1B3Mar 22, 2023
ASXL31Mar 22, 2023
ATP1A21Mar 22, 2023
ATRX2Mar 22, 2023
BCL11A2Mar 22, 2023
BCORL11Nov 19, 2018
BMPR21Nov 19, 2018
BPTF2Mar 22, 2023
BRCA21Nov 19, 2018
C2CD31Nov 19, 2018
CACNA1A2Nov 19, 2018
CACNA1D1Mar 22, 2023
CAMTA11Mar 22, 2023
CASR1Nov 19, 2018
CCDC651Nov 19, 2018
CEL1Nov 19, 2018
CHD71Mar 22, 2023
CHEK21Nov 19, 2018
CHN12Mar 22, 2023
CIITA1Nov 19, 2018
CLCN21Nov 19, 2018
CLN61Mar 22, 2023
COL17A12Mar 22, 2023
COL1A12Sep 22, 2017
COL2A11Sep 22, 2017
COL5A21Nov 19, 2018
COL6A21Nov 19, 2018
COL6A31Nov 19, 2018
COL7A12Mar 22, 2023
COPA1Mar 22, 2023
CPT21Nov 19, 2018
CREBBP3Mar 22, 2023
CSPP11Nov 19, 2018
CTCF1Mar 22, 2023
DCC1Nov 19, 2018
DCHS13Dec 20, 2018
DDX3X1Mar 22, 2023
DEPDC52Mar 22, 2023
DES1Nov 19, 2018
DNAH111Nov 19, 2018
DNAH51Nov 19, 2018
DNAJC212Mar 22, 2023
DNMT11Nov 19, 2018
DPP61Mar 22, 2023
DPYD1Nov 19, 2018
DYNC1H11Mar 22, 2023
DYNC2H11Nov 19, 2018
DYNC2I11Mar 22, 2023
DYRK1A1Mar 22, 2023
EARS22Mar 22, 2023
EEF1A21Apr 10, 2020
EFTUD21Mar 22, 2023
EIF2B52Mar 22, 2023
ERCC81Mar 22, 2023
ERF1Nov 19, 2018
EXOSC31Mar 22, 2023
FAM111B2Mar 22, 2023
FARS22Mar 22, 2023
FAT42Dec 20, 2018
FBN11Mar 22, 2023
FGF141Nov 19, 2018
FKBP102Mar 22, 2023
FLNA1Nov 19, 2018
FLNB1Mar 22, 2023
FOXN12Mar 22, 2023
FOXP11Mar 22, 2023
FOXP21Nov 19, 2018
FOXP32Mar 22, 2023
FRRS1L2Mar 22, 2023
GABRB31Nov 19, 2018
GATA31Mar 22, 2023
GATA41Nov 19, 2018
GATAD2B1Mar 22, 2023
GFM12Mar 22, 2023
GJB21Nov 19, 2018
GNS1Nov 19, 2018
GRID21Mar 22, 2023
GRIN12Mar 22, 2023
GTPBP32Mar 22, 2023
HERC21Nov 19, 2018
HIBCH2Mar 22, 2023
HRAS1Mar 22, 2023
HYDIN2Nov 19, 2018
IDS1Nov 19, 2018
IGF21Mar 22, 2023
IGHMBP21Sep 22, 2017
IL2RG1Mar 22, 2023
INPP5E1Nov 19, 2018
INS-IGF21Mar 22, 2023
ITGB41Mar 22, 2023
JAK31Nov 19, 2018
KANSL11Mar 22, 2023
KAT6A1Mar 22, 2023
KCNJ61Mar 22, 2023
KCNJ6-AS11Mar 22, 2023
KCNQ11Nov 19, 2018
KIF1A1Nov 19, 2018
KMT2B1Mar 22, 2023
KMT2D2Mar 22, 2023
LDLR1Dec 20, 2018
LOC1027240585Mar 22, 2023
LOC1053715661Dec 20, 2018
LOC1213929291Nov 19, 2018
LOC1254677681Nov 19, 2018
LOC1268614061Mar 22, 2023
LOC1268618981Nov 19, 2018
LOC1268622642Nov 19, 2018
LOC1299305611Nov 19, 2018
LRRC561Mar 22, 2023
MED251Nov 19, 2018
MEFV3Nov 19, 2018
MEN11Dec 20, 2018
MLH11Sep 22, 2017
MT-ND11Dec 21, 2021
MTM12Mar 22, 2023
MYH71Nov 19, 2018
MYH81Nov 19, 2018
MYHAS1Nov 19, 2018
MYLK1Dec 20, 2018
MYO15A1Dec 20, 2018
MYOC1Nov 19, 2018
NAGLU1Mar 22, 2023
NBAS2Mar 22, 2023
NCAPD31Mar 22, 2023
NEK12Nov 19, 2018
NF12Mar 22, 2023
NHLH11Mar 22, 2023
NKX2-11Mar 22, 2023
NR2F12Mar 22, 2023
NR2F1-AS12Mar 22, 2023
NSD14Mar 22, 2023
OBSL12Nov 19, 2018
PACS12Mar 22, 2023
PAX81Nov 19, 2018
PCDH191Nov 19, 2018
PEX21Mar 22, 2023
PEX62Mar 22, 2023
PGAP32Mar 22, 2023
PHIP2Mar 22, 2023
PIK3CA1Mar 22, 2023
PIK3R12Mar 22, 2023
PIK3R21Sep 22, 2017
PKHD12Mar 22, 2023
PLAA2Mar 22, 2023
PLP11Mar 22, 2023
PMS21Nov 19, 2018
POLG1Nov 19, 2018
POLGARF1Nov 19, 2018
PPP2R1A2Mar 22, 2023
PTEN3Mar 22, 2023
PTPN111Mar 22, 2023
PUF601Mar 22, 2023
QARS14Mar 22, 2023
RAB9B1Mar 22, 2023
RAC22Mar 22, 2023
RAG21Sep 22, 2017
RB11Mar 22, 2023
RPS262Mar 22, 2023
RYR14Mar 22, 2023
SCN1A5Mar 22, 2023
SCN5A1Sep 22, 2017
SCNN1A1Nov 19, 2018
SETD21Mar 22, 2023
SETD51Mar 22, 2023
SF3B41Sep 22, 2017
SFTA31Mar 22, 2023
SFTPC1Nov 19, 2018
SHOC21Mar 22, 2023
SLC12A11Nov 19, 2018
SLC6A11Mar 22, 2023
SLC9A62Mar 22, 2023
SMARCB11Sep 22, 2017
SMC1A1Mar 22, 2023
SOX32Nov 19, 2018
SPTA11Mar 22, 2023
STAT15Mar 27, 2023
SYNE21Nov 19, 2018
SZT24Mar 22, 2023
TBR11Mar 22, 2023
TCOF11Sep 22, 2017
TGFB11Mar 22, 2023
TMCO14Mar 22, 2023
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
TYR2Mar 22, 2023
USH2A2Nov 19, 2018
USH2A-AS21Nov 19, 2018
USP72Nov 19, 2018
VANGL11Nov 19, 2018
VWF1Mar 22, 2023
WFS11Nov 19, 2018
XDH2Nov 19, 2018
XIAP1Mar 22, 2023
ZC4H21Mar 22, 2023

Condition

NameSubmissionsLast Updated
2-3 toe syndactyly3Nov 19, 2018
Abdominal distention2Nov 19, 2018
Abnormal aggressive, impulsive or violent behavior2Nov 19, 2018
Abnormal autonomic nervous system physiology4Nov 19, 2018
Abnormal basal ganglia MRI signal intensity2Nov 19, 2018
Abnormal basal ganglia morphology3Nov 19, 2018
Abnormal blistering of the skin1Nov 19, 2018
Abnormal brainstem MRI signal intensity2Nov 19, 2018
Abnormal cellular immune system morphology3Nov 19, 2018
Abnormal cerebral white matter morphology14Dec 20, 2018
Abnormal corpus callosum morphology6Dec 20, 2018
Abnormal facial shape2Nov 19, 2018
Abnormal female external genitalia morphology2Nov 19, 2018
Abnormal globus pallidus morphology3Nov 19, 2018
Abnormal nonverbal communicative behavior5Nov 19, 2018
Abnormal nostril morphology2Nov 19, 2018
Abnormal pinna morphology1Nov 19, 2018
Abnormal pulmonary interstitial morphology7Nov 19, 2018
Abnormal renal pelvis morphology3Dec 20, 2018
Abnormal skin morphology1Nov 19, 2018
Abnormal sternum morphology2Nov 19, 2018
Abnormal substantia nigra morphology1Nov 19, 2018
Abnormal thalamic MRI signal intensity2Nov 19, 2018
Abnormal upper limb bone morphology3Nov 19, 2018
Abnormality of T cell physiology4Nov 19, 2018
Abnormality of neuronal migration1Nov 19, 2018
Abnormality of the anterior fontanelle4Nov 19, 2018
Abnormality of the cervical spine3Nov 19, 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 skin1Nov 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
Ankyloglossia3Dec 20, 2018
Anomalous origin of coronary artery from the pulmonary artery3Nov 19, 2018
Anonychia1Nov 19, 2018
Anxiety4Nov 19, 2018
Aortic dissection2Dec 20, 2018
Aortic root aneurysm1Nov 19, 2018
Aplasia cutis congenita1Nov 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
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
Autism10Nov 19, 2018
Autistic behavior6Nov 19, 2018
Autoimmunity1Nov 19, 2018
Autosomal dominant inheritance1Nov 19, 2018
Axillary freckling1Sep 22, 2017
Bicoronal synostosis3Dec 20, 2018
Bifid ribs2Nov 19, 2018
Bifid uvula2Nov 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
Blue sclerae1Sep 22, 2017
Bone marrow hypocellularity6Feb 2, 2021
Bone osteosarcoma1Nov 19, 2018
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 hemangioma1Nov 19, 2018
Cardiac arrhythmia1Sep 22, 2017
Cardiomyopathy2Nov 19, 2018
Carotid artery dissection2Dec 20, 2018
Carotid artery occlusion2Dec 20, 2018
Cataract2Nov 19, 2018
Central hypotonia6Nov 19, 2018
Cerebellar vermis hypoplasia5Nov 19, 2018
Cerebral venous thrombosis2Nov 19, 2018
Cerebral visual impairment6Dec 20, 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 oral candidiasis1Nov 19, 2018
Chronic pain4Nov 19, 2018
Chylothorax2Dec 20, 2018
Cleft palate15Dec 20, 2018
Cleft upper lip2Nov 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 immunodeficiency9Nov 19, 2018
Complete duplication of proximal phalanx of the thumb2Nov 19, 2018
Congenital diaphragmatic hernia3Dec 20, 2018
Congenital laryngomalacia3Nov 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
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 and epileptic encephalopathy, 331Apr 10, 2020
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 retraction syndrome3Nov 19, 2018
Dysphagia1Nov 19, 2018
Dystonic disorder4Dec 20, 2018
Ectopic ossification2Nov 19, 2018
Ectopic tissue2Nov 19, 2018
Ectrodactyly1Nov 19, 2018
Eczematoid dermatitis2Nov 19, 2018
Elevated circulating creatine kinase concentration2Nov 19, 2018
Enlarged naris2Nov 19, 2018
Epileptic encephalopathy2Dec 20, 2018
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 seizure (within the age range of 3 months to 6 years)2Nov 19, 2018
Feeding difficulties3Nov 19, 2018
Fetal growth restriction2Nov 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
Glomerulonephritis1Nov 19, 2018
Gowers sign1Mar 23, 2018
Gray matter heterotopia1Nov 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
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
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
Intestinal obstruction2Nov 19, 2018
Involuntary movements2Nov 19, 2018
Irregular dentition1Nov 19, 2018
Irregular hyperpigmentation1Nov 19, 2018
Isolated Pierre-Robin syndrome1Nov 19, 2018
Joint contracture of the hand1Nov 19, 2018
Joint hypermobility4Dec 20, 2018
Joint laxity3Nov 19, 2018
Kyphosis2Nov 19, 2018
Leigh syndrome1Dec 21, 2021
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
Macrocephaly8Nov 19, 2018
Macroglossia2Nov 19, 2018
Malar flattening1Sep 22, 2017
Mandibular prognathia2Nov 19, 2018
Median cleft upper lip3Nov 19, 2018
Megalencephaly, autosomal dominant1Nov 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
Muscular atrophy1Nov 19, 2018
Myelitis2Nov 19, 2018
Myopathy2Nov 19, 2018
Myositis disease1Nov 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
Night blindness3Nov 19, 2018
Non-immune hydrops fetalis1Nov 19, 2018
Numerous nevi1Nov 19, 2018
Nystagmus1Nov 19, 2018
Obesity4Nov 19, 2018
Obstructive sleep apnea syndrome2Nov 19, 2018
Oculomotor apraxia4Nov 19, 2018
Optic disc pallor1Nov 19, 2018
Orofacial cleft1Nov 19, 2018
Orofacial dyskinesia2Nov 19, 2018
Osteopenia1Nov 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 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
Preauricular pit1Nov 19, 2018
Preaxial foot polydactyly3Nov 19, 2018
Premature birth1Nov 19, 2018
Primary hypothyroidism1Nov 19, 2018
Primary microcephaly4Nov 19, 2018
Profound global developmental delay10Dec 20, 2018
Prominent fingertip pads1Nov 19, 2018
Prominent supraorbital ridges2Nov 19, 2018
Protein-losing enteropathy2Nov 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 valve insufficiency2Nov 19, 2018
Pulmonic stenosis2Nov 19, 2018
Punctate palmoplantar hyperkeratosis1Nov 19, 2018
Recurrent fractures3Nov 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
STAT1-Related Disorder1Sep 28, 2022
Sagittal craniosynostosis3Dec 20, 2018
Scoliosis5Nov 19, 2018
Secondary microcephaly5Dec 20, 2018
See cases127Mar 27, 2023
Seizure27Dec 20, 2018
Sensorineural hearing loss disorder5Nov 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
Severely reduced visual acuity2Nov 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 myopathy2Nov 19, 2018
Sleep abnormality2Nov 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
Stenosis of the external auditory canal1Sep 22, 2017
Stereotypic movement disorder3Nov 19, 2018
Strabismus4Nov 19, 2018
Striae distensae1Nov 19, 2018
Stroke disorder2Dec 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
Torticollis1Nov 19, 2018
Treacher Collins syndrome1Sep 22, 2017
Trichiasis1Nov 19, 2018
Unilateral polymicrogyria1Nov 19, 2018
Unilateral renal agenesis2Nov 19, 2018
Urachal cyst2Nov 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