ClinVar Miner

Variants from Center for Personalized Medicine, Children's Hospital Los Angeles

Location: United States  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
89 75 72 5 0 241

Gene and significance breakdown #

Total genes and gene combinations: 191
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
ABCA3 1 2 1 0 4
LOC102724058, SCN1A 2 1 0 1 4
RYR1 1 0 3 0 4
DCHS1 0 0 2 1 3
NSD1 1 2 0 0 3
ADAR 0 0 2 0 2
ALPL 2 0 0 0 2
ARID1B 2 0 0 0 2
BCL11A 1 1 0 0 2
CACNA1A 0 0 2 0 2
COL1A1 1 1 0 0 2
COL7A1 1 1 0 0 2
CREBBP 1 1 0 0 2
DEPDC5 0 1 1 0 2
EARS2 1 1 0 0 2
FARS2 0 2 0 0 2
FAT4 0 0 1 1 2
FRRS1L 0 2 0 0 2
GFM1 2 0 0 0 2
GTPBP3 0 2 0 0 2
HIBCH 0 2 0 0 2
HYDIN 0 1 1 0 2
KMT2D 2 0 0 0 2
NBAS 1 1 0 0 2
NEK1 0 0 2 0 2
NF1 1 1 0 0 2
NR2F1 0 1 1 0 2
OBSL1 0 0 2 0 2
PEX6 0 1 1 0 2
PHIP 1 1 0 0 2
PIK3R1 2 0 0 0 2
PTEN 2 0 0 0 2
QARS1 0 2 0 0 2
STAT1 2 0 0 0 2
SZT2 0 2 0 0 2
TMCO1 1 1 0 0 2
TNFRSF13B 0 0 2 0 2
TP53 2 0 0 0 2
TYR 2 0 0 0 2
USH2A 1 0 1 0 2
USP7 0 0 2 0 2
XDH 0 0 2 0 2
ACTA1 1 0 0 0 1
AHDC1 1 0 0 0 1
AHI1 0 0 1 0 1
ALG13 0 1 0 0 1
ANK2 0 1 0 0 1
AP1B1 0 0 1 0 1
ARFGEF1, CSPP1 0 0 1 0 1
ASXL3 1 0 0 0 1
ATP1A2 0 1 0 0 1
ATRX 1 0 0 0 1
BCORL1 0 0 1 0 1
BMPR2 0 0 1 0 1
BPTF 1 0 0 0 1
BRCA2 1 0 0 0 1
C2CD3, LOC121392929 0 0 1 0 1
CACNA1D 0 1 0 0 1
CAMTA1 1 0 0 0 1
CASR 0 0 1 0 1
CCDC65 1 0 0 0 1
CEL 0 0 1 0 1
CHD7 1 0 0 0 1
CHEK2 1 0 0 0 1
CHN1 0 1 0 0 1
CIITA 0 0 1 0 1
CLCN2 0 0 1 0 1
CLN6 1 0 0 0 1
COL17A1 1 0 0 0 1
COL2A1 1 0 0 0 1
COL5A2 0 0 1 0 1
COL6A2 0 0 1 0 1
COL6A3 0 0 1 0 1
COPA 1 0 0 0 1
CPT2, LOC129930561 1 0 0 0 1
CTCF 1 0 0 0 1
DCC 0 1 0 0 1
DDX3X 1 0 0 0 1
DES 0 0 1 0 1
DNAH11 0 0 1 0 1
DNAH5 0 0 1 0 1
DNAJC21 1 0 0 0 1
DNMT1 0 0 1 0 1
DPP6 0 1 0 0 1
DPYD 1 0 0 0 1
DYNC1H1 0 1 0 0 1
DYNC2H1 0 0 1 0 1
DYNC2I1 0 1 0 0 1
DYRK1A 0 1 0 0 1
EEF1A2 0 1 0 0 1
EFTUD2 1 0 0 0 1
EIF2B5 1 0 0 0 1
ERCC8 1 0 0 0 1
ERF 0 0 1 0 1
EXOSC3 1 0 0 0 1
FAM111B 0 1 0 0 1
FBN1 1 0 0 0 1
FGF14 0 1 0 0 1
FKBP10 1 0 0 0 1
FLNA 0 0 1 0 1
FLNB 0 1 0 0 1
FOXN1 0 1 0 0 1
FOXP1 1 0 0 0 1
FOXP2 0 0 1 0 1
FOXP3 1 0 0 0 1
GABRB3 0 0 1 0 1
GATA3 1 0 0 0 1
GATA4 0 0 1 0 1
GATAD2B 1 0 0 0 1
GJB2 0 1 0 0 1
GNS 0 0 1 0 1
GRID2 0 1 0 0 1
GRIN1 0 1 0 0 1
HERC2 0 0 1 0 1
HRAS, LRRC56 1 0 0 0 1
IDS 0 0 1 0 1
IGF2, INS-IGF2 0 1 0 0 1
IGHMBP2 1 0 0 0 1
IL2RG 0 1 0 0 1
INPP5E 1 0 0 0 1
ITGB4 0 1 0 0 1
JAK3 0 0 1 0 1
KANSL1 1 0 0 0 1
KAT6A 1 0 0 0 1
KCNJ6 0 1 0 0 1
KCNQ1 0 1 0 0 1
KIF1A 0 0 1 0 1
KMT2B 0 1 0 0 1
LDLR 1 0 0 0 1
LOC125467768, PCDH19 0 0 1 0 1
LOC126861406, NCAPD3 0 1 0 0 1
LOC126861898, MYH7 0 1 0 0 1
LOC126862264, MEFV 1 0 0 0 1
MED25 0 0 1 0 1
MEFV 0 0 1 0 1
MEN1 0 0 1 0 1
MLH1 0 0 1 0 1
MT-ND1 0 1 0 0 1
MTM1 1 0 0 0 1
MYH8, MYHAS 0 0 1 0 1
MYLK 0 0 1 0 1
MYO15A 0 0 0 1 1
MYOC 0 1 0 0 1
NAGLU 0 1 0 0 1
NKX2-1, SFTA3 0 1 0 0 1
PACS1 1 0 0 0 1
PAX8 0 0 1 0 1
PEX2 1 0 0 0 1
PGAP3 1 0 0 0 1
PIK3CA 0 1 0 0 1
PIK3R2 0 0 1 0 1
PKHD1 1 0 0 0 1
PLAA 0 1 0 0 1
PLP1, RAB9B 0 1 0 0 1
PMS2 1 0 0 0 1
POLG, POLGARF 0 0 1 0 1
PPP2R1A 1 0 0 0 1
PTPN11 1 0 0 0 1
PUF60 1 0 0 0 1
RAC2 0 1 0 0 1
RAG2 0 1 0 0 1
RB1 1 0 0 0 1
RPS26 1 0 0 0 1
SCN5A 0 0 1 0 1
SCNN1A 0 0 1 0 1
SETD2 0 1 0 0 1
SETD5 1 0 0 0 1
SF3B4 1 0 0 0 1
SFTPC 0 1 0 0 1
SHOC2 0 1 0 0 1
SLC12A1 0 0 1 0 1
SLC6A1 0 1 0 0 1
SLC9A6 0 1 0 0 1
SMARCB1 1 0 0 0 1
SMC1A 1 0 0 0 1
SOX3 0 0 1 0 1
SPTA1 0 1 0 0 1
SYNE2 0 0 1 0 1
TBR1 0 1 0 0 1
TCOF1 1 0 0 0 1
TGFB1 1 0 0 0 1
TNNT3 0 0 1 0 1
TRH 0 0 1 0 1
TRPM4 0 0 0 1 1
TTN 0 1 0 0 1
TTR 1 0 0 0 1
VANGL1 0 0 1 0 1
VWF 1 0 0 0 1
WFS1 1 0 0 0 1
XIAP 0 1 0 0 1
ZC4H2 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 95
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Condition pathogenic likely pathogenic uncertain significance likely benign total
See cases 65 60 2 0 127
Cryptorchidism; Global developmental delay; Seizure; Abnormality of the anterior fontanelle; Macrocephaly; Deep plantar creases; Abnormal cerebral white matter morphology; Central hypotonia 1 2 1 0 4
Ankyloglossia; Coarctation of aorta; Atrial septal defect; Heart block; Clinodactyly of the 5th finger; Generalized hypotonia; Delayed gross motor development; Bronchomalacia; Sagittal craniosynostosis; Bilateral single transverse palmar creases; Bicoronal synostosis; Ventricular septal defect 0 0 3 0 3
Clinodactyly of the 5th finger; Anomalous origin of coronary artery from the pulmonary artery; Cough 1 0 2 0 3
Clubfoot; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Abnormal pulmonary interstitial morphology; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus 1 0 2 0 3
Colitis; Inflammation of the large intestine; Hematochezia; Thrombocytopenia 1 0 2 0 3
Dandy-Walker syndrome; Congenital laryngomalacia; Sensorineural hearing loss disorder; Duane retraction syndrome; Global developmental delay; Micrognathia; Hydronephrosis; Feeding difficulties; Abnormality of the diaphragm; Abnormality of the vertebral column; Hydroureter; Arachnodactyly; Microglossia; Night blindness; Cerebellar vermis hypoplasia; Abnormality of the cervical spine; Diaphragmatic eventration; Small hand; Cleft palate 1 1 1 0 3
Failure to thrive; Sensory neuropathy; Generalized hypotonia; Broad-based gait; Sensory ataxic neuropathy; Decreased body weight; Impaired distal proprioception; Sensory ataxia 0 0 3 0 3
Global developmental delay; Abnormal corpus callosum morphology; Hypoplasia of the corpus callosum; Delayed speech and language development; Hypopigmented skin patches; Generalized hypotonia; Neonatal hypotonia; Joint hypermobility; Relative macrocephaly; Periventricular heterotopia; Abnormal renal pelvis morphology 0 0 2 1 3
Global developmental delay; Seizure; Low-set ears; Agenesis of maxillary lateral incisor; Congenital diaphragmatic hernia; Low posterior hairline; Infantile axial hypotonia; Severe global developmental delay; Profound global developmental delay; Cleft palate 1 0 1 1 3
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue 2 0 1 0 3
Pulmonary arterial hypertension; Respiratory distress; Neonatal respiratory distress 0 2 1 0 3
Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormal cellular immune system morphology; Abnormality of T cell physiology; Combined immunodeficiency 0 3 0 0 3
Short stature; Cognitive impairment; High palate; Distal arthrogryposis; Anxiety; Brisk reflexes; Abnormal autonomic nervous system physiology; Abnormality of the upper limb; Multiple joint contractures; Dislocated radial head; Abnormality of upper limb joint; Chronic pain; Abnormal upper limb bone morphology 1 0 2 0 3
Skeletal dysplasia 3 0 0 0 3
Anemia; Pancytopenia; Bone marrow hypocellularity 2 0 0 0 2
Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke disorder 1 0 1 0 2
Ascites; Pleural effusion; Wide intermamillary distance; Right ventricular hypertrophy; Low-set nipples; Chylothorax; Hydrops fetalis 0 0 1 1 2
Atrial septal defect; High palate; Frontal bossing; Thin upper lip vermilion; Pectus carinatum; Generalized hypotonia; Joint laxity; Abnormal cerebral white matter morphology; Downturned corners of mouth; Cerebral white matter atrophy 0 1 1 0 2
Atrial septal defect; Hydronephrosis; Pulmonary hypoplasia; Respiratory failure; Abdominal distention; Gastrointestinal obstruction; Respiratory failure requiring assisted ventilation; Intestinal obstruction; Abnormal pulmonary interstitial morphology; Primary microcephaly; Ventricular septal defect 0 0 2 0 2
Autism; Cryptorchidism; Hypertelorism; Bifid uvula; Seizure; Cognitive impairment; Scoliosis; Patent foramen ovale; Prominent supraorbital ridges; Hypermetropia; Disproportionate tall stature; Pectus carinatum; Highly arched eyebrow; Overfolding of the superior helices; Talipes valgus; Chronic lung disease; Midface retrusion; Cleft palate 1 1 0 0 2
Autism; Cryptorchidism; Pulmonic stenosis; Sensorineural hearing loss disorder; Global developmental delay; Scoliosis; Hemivertebrae; Bilateral cleft lip and palate; Rib fusion; Abnormal sternum morphology; Bilateral cleft palate; Delayed speech and language development; Renal agenesis; Unilateral renal agenesis; Strabismus; Severely reduced visual acuity; Relative macrocephaly; Bilateral cleft lip; Cleft palate 1 0 1 0 2
Autism; Macroglossia; Global developmental delay; Seizure; Hallux valgus; Cognitive impairment; Aggressive behavior; Coarse facial features; Mandibular prognathia; 2-3 toe syndactyly; Bulbous nose; Frontal bossing; Thick lower lip vermilion; Widely spaced teeth; Intellectual disability; Short toe; Clinodactyly of the 5th toe; Intellectual disability, profound; Abnormal aggressive, impulsive or violent behavior; Slit-like opening of the exterior auditory meatus; Shortening of all phalanges of fingers; Profound global developmental delay 1 0 1 0 2
Bone marrow hypocellularity 1 1 0 0 2
Brachydactyly; Autistic behavior; Stereotypic movement disorder; Abnormal facial shape; Synophrys; Microcephaly; Abnormal nonverbal communicative behavior; Generalized hypotonia; Profound global developmental delay 2 0 0 0 2
Cleft upper lip; Cognitive impairment; Median cleft upper lip; Bifid ribs; Asymmetry of the thorax; Periventricular leukomalacia; Cleft palate 0 1 1 0 2
Elevated circulating creatine kinase concentration; Dystonic disorder; Global developmental delay; Abnormal female external genitalia morphology; Oculomotor apraxia; Orofacial dyskinesia; Abnormal globus pallidus morphology; Involuntary movements; Hypoplastic female external genitalia; Rhabdomyolysis 0 0 2 0 2
Failure to thrive; Cognitive impairment; Hypothyroidism; Chronic diarrhea; Combined immunodeficiency; Bronchiectasis 1 0 1 0 2
Global developmental delay; Choreoathetosis; Aqueductal stenosis 0 0 2 0 2
Global developmental delay; Oculomotor apraxia; Generalized hypotonia; Cerebellar vermis hypoplasia; Relative macrocephaly; Congenital ptosis 0 0 2 0 2
Global developmental delay; Seizure; Brachycephaly; Generalized hypotonia; Chorea 0 0 2 0 2
Immunodeficiency; Lymphopenia; Cor triatriatum dexter; Cough 0 0 2 0 2
Insomnia; Seizure; Ectopic tissue; Cerebral visual impairment; Hypoplasia of the corpus callosum; Microcephaly; Strabismus; Abnormal nonverbal communicative behavior; Short foot; Profound global developmental delay; Small hand 0 2 0 0 2
Leukodystrophy; Dystonic disorder; Developmental regression; Abnormal cerebral white matter morphology 1 0 1 0 2
Macrocephaly; Delayed eruption of primary teeth; Generalized hypotonia; Complete duplication of proximal phalanx of the thumb; Moderate global developmental delay; Central hypotonia 0 0 2 0 2
Muscle weakness; Spasticity; Hypertonia; Neurogenic bladder; Spastic gait; Abnormal cerebral white matter morphology; Cerebral venous thrombosis; Bone marrow hypocellularity; Myelitis; Abnormal thalamic MRI signal intensity; Abnormal brainstem MRI signal intensity; Combined immunodeficiency 0 0 2 0 2
Myopathy; Respiratory distress; Proximal muscle weakness; Pulmonary alveolar proteinosis; Generalized hypotonia; Neonatal hypotonia; Restrictive ventilatory defect; Neonatal respiratory distress; Respiratory insufficiency due to muscle weakness; Skeletal myopathy; Abnormal pulmonary interstitial morphology; Congenital peripheral neuropathy; Proximal muscle weakness in upper limbs; Infantile axial hypotonia 0 1 1 0 2
Obstructive sleep apnea syndrome; Obesity; Cardiomyopathy; Glaucoma; Muscle weakness; Specific learning disability; Panhypopituitarism; Generalized hypotonia; Gastroesophageal reflux; Limb-girdle muscle weakness 0 0 2 0 2
Plagiocephaly; Global developmental delay; Visual impairment; Cerebral visual impairment; Generalized hypotonia; Hypsarrhythmia; Secondary microcephaly; Posterior plagiocephaly; Epileptic encephalopathy; Infantile spasms; Mild microcephaly 0 0 1 1 2
Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormal cerebral white matter morphology; Abnormal nostril morphology; Secondary microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Primary microcephaly 1 1 0 0 2
Protein-losing enteropathy; Short stature; Fetal growth restriction; Hydronephrosis; Cataract; Eczematoid dermatitis; Immunodeficiency; Neutropenia; Urachal cyst; Thrombocytopenia 0 0 2 0 2
Pulmonary arterial hypertension; Respiratory failure requiring assisted ventilation; Patent ductus arteriosus 0 1 1 0 2
Pulmonary arterial hypertension; Respiratory insufficiency; Pulmonary valve insufficiency 1 1 0 0 2
Seizure; Micrognathia; Cognitive impairment; Cafe-au-lait spot; Frontal bossing; High forehead; Abnormal basal ganglia morphology; Thoracic scoliosis; Abnormal basal ganglia MRI signal intensity 0 0 2 0 2
Sleep abnormality; Choreoathetosis; Chorea; Paroxysmal choreoathetosis; Paroxysmal dyskinesia 0 0 2 0 2
Abnormality of the vertebral column; Dental malocclusion; Numerous nevi; Inability to walk; Muscular atrophy; Sensory ataxia; Abnormality of the dorsal column of the spinal cord 0 0 1 0 1
Anonychia; Failure to thrive; Constipation; Abnormality of the dentition; Abnormality of the skin; Pterygium of nails; Sparse scalp hair; Discolored lateral incisors; Abnormal blistering of the skin; Nail dystrophy; Abnormal skin morphology; Generalized abnormality of skin; Irregular dentition; Hyperkeratotic papule 1 0 0 0 1
Aplasia cutis congenita; Small nail; Hypermelanotic macule; Hypoplastic toenails; Pterygium of nails; Hyperpigmented/hypopigmented macules; Punctate palmoplantar hyperkeratosis; Aplasia/Hypoplasia of the nails; Aplastic/hypoplastic toenail; Mild global developmental delay 0 0 1 0 1
Autism; Global developmental delay; Autistic behavior; Micrognathia; Abnormal corpus callosum morphology; Nystagmus; Stereotypic movement disorder; Hypoplasia of the corpus callosum; Abnormal pinna morphology; Delayed speech and language development; Downslanted palpebral fissures; Proximal placement of thumb; Speech apraxia; Wide intermamillary distance; Microcephaly; Facial hypotonia; Generalized hypotonia; Abnormal cerebral white matter morphology; Downturned corners of mouth; Long toe; Moderate global developmental delay; Cerebral white matter hypoplasia; Long fingers 0 0 1 0 1
Autism; Global developmental delay; Seizure; Cognitive impairment; Cerebral visual impairment; Microcephaly; Developmental regression; Infantile spasms 1 0 0 0 1
Autism; Pectus excavatum; Esotropia; Global developmental delay; Seizure; Short stature; Failure to thrive; Deeply set eye; Clinodactyly of the 5th finger; Abnormal nonverbal communicative behavior; Generalized hypotonia; Chorea; Secondary microcephaly; Focal white matter lesions 0 1 0 0 1
Autism; Seizure; Cafe-au-lait spot; Joint laxity 1 0 0 0 1
Autistic behavior; Seizure; Cognitive impairment; 2-3 toe syndactyly; Broad forehead; Clinodactyly of the 5th finger; Prominent fingertip pads; Periventricular heterotopia; Attention deficit hyperactivity disorder 0 0 1 0 1
Autistic behavior; Specific learning disability; Abnormal basal ganglia morphology; Abnormal globus pallidus morphology; Bilateral basal ganglia lesions; Abnormal substantia nigra morphology; Attention deficit hyperactivity disorder 0 0 1 0 1
Blue sclerae; Recurrent fractures 0 1 0 0 1
Cardiac arrhythmia 0 0 1 0 1
Congenital muscular dystrophy; Scoliosis; Broad-based gait; Delayed gross motor development; Distal muscle weakness; Gowers sign; Severe muscular hypotonia; Heart murmur 0 1 0 0 1
Corpus callosum, agenesis of; Orofacial cleft; Abnormal corpus callosum morphology; Median cleft upper lip; Accessory oral frenulum; Hamartoma of tongue; Colpocephaly 0 0 1 0 1
Crouzon syndrome; Treacher Collins syndrome 1 0 0 0 1
Cryptorchidism; Bone osteosarcoma; Ambiguous genitalia; Microcephaly; Intellectual disability, severe 1 0 0 0 1
Delayed speech and language development; Specific learning disability; Anxiety; Irregular hyperpigmentation; Chronic constipation; Combined immunodeficiency 0 0 1 0 1
Dentinogenesis imperfecta; Recurrent fractures 1 0 0 0 1
Developmental and epileptic encephalopathy, 33 0 1 0 0 1
Diabetes mellitus type 1; Glomerulonephritis; Autoimmunity; Chronic gastritis; Gastritis; Crescentic glomerulonephritis; Chronic kidney disease; Thyroiditis; Autosomal dominant inheritance; Diabetes mellitus; X-linked dominant inheritance 0 0 1 0 1
Ectrodactyly; Global developmental delay; Growth delay; Microcephaly; Split foot; Lymphadenopathy; Lymphoproliferative disorder; Combined immunodeficiency 0 1 0 0 1
Global developmental delay; Autistic behavior; Expressive language delay; Febrile seizure (within the age range of 3 months to 6 years); Macrocephaly 0 1 0 0 1
Global developmental delay; Cerebral visual impairment; Microcephaly; Osteopenia; Infantile spasms 0 1 0 0 1
Global developmental delay; Expressive language delay; Seizure; Single transverse palmar crease; Generalized hypotonia; Broad-based gait; Sensory ataxia 0 0 1 0 1
Global developmental delay; Microcephaly; Intellectual disability; Profound global developmental delay 0 1 0 0 1
Global developmental delay; Motor delay; Seizure; Abnormal corpus callosum morphology; Exotropia; Polymicrogyria; Generalized hypotonia; Delayed gross motor development; Gray matter heterotopia; Abnormal cerebral white matter morphology; Polyphagia; Unilateral polymicrogyria; Infantile spasms 0 0 1 0 1
Global developmental delay; Preauricular pit; Macrocephaly; Intermittent thrombocytopenia; Hypoplasia of proximal radius; Joint contracture of the hand 0 0 1 0 1
Global developmental delay; Seizure 0 0 1 0 1
Hyperreflexia; Failure to thrive; Respiratory distress; Ptosis; Clonus; Tachypnea; Severe muscular hypotonia 1 0 0 0 1
Hypertelorism; Megalencephaly, autosomal dominant; Sudden death; Seizure; Febrile seizure (within the age range of 3 months to 6 years); Gliosis; Frontal bossing; Polymicrogyria; Abnormality of neuronal migration; Death in childhood; Hemimegalencephaly 1 0 0 0 1
Hypotelorism; Horseshoe kidney; Optic disc pallor; Mitral valve prolapse; Aortic root aneurysm 1 0 0 0 1
Immunodeficiency 0 1 0 0 1
Inguinal hernia; Cafe-au-lait spot; Delayed speech and language development; Specific learning disability; Axillary freckling; Inguinal freckling; Familial predisposition 1 0 0 0 1
Isolated Pierre-Robin syndrome; Skeletal dysplasia; Distal arthrogryposis; Microcephaly 0 0 1 0 1
Leigh syndrome 0 1 0 0 1
Li-Fraumeni syndrome 1 1 0 0 0 1
Micrognathia; Malar flattening; Stenosis of the external auditory canal; Midface retrusion 1 0 0 0 1
Migraine; Obesity; Short attention span; Muscle weakness; Headache; Nephrolithiasis; Striae distensae; Ectopic ossification; Asthma 1 0 0 0 1
Myositis disease; Short stature; Kyphosis; Ectopic ossification 0 1 0 0 1
Neoplasm of the central nervous system 1 0 0 0 1
Non-immune hydrops fetalis; Immunodeficiency; Trichiasis; Neonatal hypotonia; Lymphopenia; Abnormality of T cell physiology 0 0 1 0 1
Obesity; Hypothyroidism; Immunodeficiency; Severe T-cell immunodeficiency; Protruding tongue 0 0 1 0 1
Pancytopenia; Arthritis; Abnormal autonomic nervous system physiology; Gastrointestinal dysmotility; Polyarticular arthritis; Sinus tachycardia; Chronic pain; Inappropriate sinus tachycardia 1 0 0 0 1
Polycystic kidney disease 1 0 0 0 1
Relative macrocephaly; Severe T-cell immunodeficiency; Aplasia of the thymus 0 1 0 0 1
STAT1-Related Disorder 1 0 0 0 1
Seizure; Delayed speech and language development 1 0 0 0 1
Seizure; Failure to thrive; Patent foramen ovale; Tachycardia; Bradycardia; Hypsarrhythmia; Hypoxemia 0 0 0 1 1
Short stature; Hypothyroidism; Delayed speech and language development; Primary hypothyroidism; Severe T-cell immunodeficiency; Chronic oral candidiasis; Liver abscess 1 0 0 0 1
Short stature; Recurrent fractures; Kyphosis 1 0 0 0 1
Torticollis; Global developmental delay; Short stature; Dysphagia; Premature birth; Generalized hypotonia; Joint hypermobility; Relative macrocephaly; Capillary hemangioma; Congenital talipes calcaneovalgus 1 0 0 0 1

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