TaoMedAI/RareMedData huggingface dataset:
Gene: REPS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Iron accumulation in brain (HP:0012675)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: ATCAY
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Dysarthria (HP:0001260)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Dystonia (HP:0001332)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Intention tremor (HP:0002080)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Intention tremor (HP:0002080)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Bradykinesia (HP:0002067)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Congenital onset (HP:0003577)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Nystagmus (HP:0000639)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Hypomimic face (HP:0000338)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: ATCAY
Phenotype: Abnormal retinal morphology (HP:0000479)
Associated disease: Cerebellar ataxia, Cayman type; Cayman ataxia (ORPHA:94122)
Gene: ATCAY
Phenotype: Pes planus (HP:0001763)
Associated disease: CEREBELLAR ATAXIA, CAYMAN TYPE (OMIM:601238)
Gene: COL27A1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Carpal synostosis (HP:0009702)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Short stature (HP:0004322)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Coxa vara (HP:0002812)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Pes planus (HP:0001763)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Pes cavus (HP:0001761)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COL27A1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: STEEL SYNDROME (OMIM:615155)
Gene: COL27A1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COL27A1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SHANK3
Phenotype: Large hands (HP:0001176)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Sporadic (HP:0003745)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Bruxism (HP:0003763)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Motor delay (HP:0001270)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Seizure (HP:0001250)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHIZOPHRENIA 15 (OMIM:613950)
Gene: SHANK3
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Tall stature (HP:0000098)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHIZOPHRENIA 15 (OMIM:613950)
Gene: SHANK3
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Polycystic kidney dysplasia (HP:0000113)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Palpebral edema (HP:0100540)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Heat intolerance (HP:0002046)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Broad-based gait (HP:0002136)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Toenail dysplasia (HP:0100797)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Schizophrenia (HP:0100753)
Associated disease: SCHIZOPHRENIA 15 (OMIM:613950)
Gene: SHANK3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Lymphedema (HP:0001004)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Cellulitis (HP:0100658)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SCHIZOPHRENIA 15 (OMIM:613950)
Gene: SHANK3
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Hyperactivity (HP:0000752)
Associated disease: SCHIZOPHRENIA 15 (OMIM:613950)
Gene: SHANK3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Autism (HP:0000717)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Hyperorality (HP:0000710)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Young adult onset (HP:0011462)
Associated disease: SCHIZOPHRENIA 15 (OMIM:613950)