TaoMedAI/RareMedData huggingface dataset:
Gene: TTC21B
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 12 (OMIM:613820)
Gene: TTC21B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 12 (OMIM:613820)
Gene: TTC21B
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 12 (OMIM:613820)
Gene: TTC21B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEPHRONOPHTHISIS 12 (OMIM:613820)
Gene: TTC21B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Scoliosis (HP:0002650)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Nephropathy (HP:0000112)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Polydactyly (HP:0010442)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Short stature (HP:0004322)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Abnormal sternum morphology (HP:0000766)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Narrow chest (HP:0000774)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Gene: TTC21B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Short thorax (HP:0010306)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTC21B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: TTC21B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTC21B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EHMT1
Phenotype: Tapered finger (HP:0001182)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Language impairment (HP:0002463)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Sporadic (HP:0003745)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Motor delay (HP:0001270)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Seizure (HP:0001250)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Seizure (HP:0001250)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Seizure (HP:0001250)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Tall stature (HP:0000098)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Micropenis (HP:0000054)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Hypospadias (HP:0000047)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Abnormal testis morphology (HP:0000035)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EHMT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)
Gene: EHMT1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Kleefstra syndrome due to 9q34 microdeletion; 9q subtelomeric deletion syndrome; Kleefstra syndrome due to monosomy 9q34; Kleefstra syndrome due to del(9)(q34); 9qSTDS; Kleefstra syndrome due to 9q subtelomeric deletion (ORPHA:96147)
Gene: EHMT1
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: KLEEFSTRA SYNDROME 1 (OMIM:610253)