TaoMedAI/RareMedData huggingface dataset:
Gene: SETD2
Phenotype: Polyphagia (HP:0002591)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Slurred speech (HP:0001350)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Syringomyelia (HP:0003396)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Hirsutism (HP:0001007)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Low hanging columella (HP:0009765)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Low hanging columella (HP:0009765)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Chiari malformation (HP:0002308)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Short stature (HP:0004322)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Anxiety (HP:0000739)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Autism (HP:0000717)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Long nose (HP:0003189)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Retrognathia (HP:0000278)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Retrognathia (HP:0000278)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Long face (HP:0000276)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Long face (HP:0000276)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Long face (HP:0000276)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Malar flattening (HP:0000272)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Malar flattening (HP:0000272)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Malar flattening (HP:0000272)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Overgrowth (HP:0001548)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Overgrowth (HP:0001548)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Overgrowth (HP:0001548)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Obesity (HP:0001513)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Obesity (HP:0001513)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: High forehead (HP:0000348)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Micrognathia (HP:0000347)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Pointed chin (HP:0000307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Pointed chin (HP:0000307)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Pointed chin (HP:0000307)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Cataract (HP:0000518)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Cataract (HP:0000518)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SETD2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Long foot (HP:0001833)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: LUSCAN-LUMISH SYNDROME (OMIM:616831)
Gene: SETD2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 70 (OMIM:620157)
Gene: SETD2
Phenotype: Retinal detachment (HP:0000541)
Associated disease: RABIN-PAPPAS SYNDROME (OMIM:620155)
Gene: SETD2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SETD2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NDUFAF4
Phenotype: Fetal distress (HP:0025116)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF4
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF4
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF4
Phenotype: CNS demyelination (HP:0007305)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (OMIM:618237)
Gene: NDUFAF4
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF4
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF4
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF4
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF4
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (OMIM:618237)
Gene: NDUFAF4
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (OMIM:618237)
Gene: NDUFAF4
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (OMIM:618237)