TaoMedAI/RareMedData huggingface dataset:
Gene: TDP2
Phenotype: Hyponatremia (HP:0002902)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: TDP2
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23 (OMIM:616949)
Gene: UFM1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Seizure (HP:0001250)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Spasticity (HP:0001257)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Dystonia (HP:0001332)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Blindness (HP:0000618)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Microcephaly (HP:0000252)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Growth delay (HP:0001510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: UFM1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Gene: LARP7
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Scoliosis (HP:0002650)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Scoliosis (HP:0002650)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Wide mouth (HP:0000154)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Wide mouth (HP:0000154)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Severe short stature (HP:0003510)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Thickened skin (HP:0001072)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Retractile testis (HP:0012646)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Decreased body weight (HP:0004325)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Anxiety (HP:0000739)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Anxiety (HP:0000739)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Self-mutilation (HP:0000742)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Slender long bone (HP:0003100)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Malar flattening (HP:0000272)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Malar flattening (HP:0000272)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Low-set ears (HP:0000369)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Low-set ears (HP:0000369)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Abnormality of the orbital region (HP:0000315)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Short philtrum (HP:0000322)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Short philtrum (HP:0000322)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Triangular face (HP:0000325)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Triangular face (HP:0000325)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Strabismus (HP:0000486)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Strabismus (HP:0000486)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Wide nose (HP:0000445)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Wide nose (HP:0000445)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: LARP7
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ALAZAMI SYNDROME (OMIM:615071)
Gene: LARP7
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Microcephalic primordial dwarfism, Alazami type; Alazami syndrome (ORPHA:319671)
Gene: TRIM33
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Abnormal palate morphology (HP:0000174)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Prominence of the premaxilla (HP:0010759)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Abnormal fontanelle morphology (HP:0011328)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Epicanthus (HP:0000286)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Malar flattening (HP:0000272)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: TRIM33
Phenotype: Deviation of finger (HP:0004097)
Associated disease: Collins-Pope syndrome; Dislocation of the hip-dysmorphism syndrome (ORPHA:2412)
Gene: NBAS
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Hepatic encephalopathy (HP:0002480)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Syndactyly (HP:0001159)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Lethargy (HP:0001254)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Seizure (HP:0001250)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Vomiting (HP:0002013)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Prominent glabella (HP:0002057)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Infantile onset (HP:0003593)
Associated disease: INFANTILE LIVER FAILURE SYNDROME 2 (OMIM:616483)
Gene: NBAS
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Fine hair (HP:0002213)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Nonprogressive visual loss (HP:0200068)
Associated disease: SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY (OMIM:614800)
Gene: NBAS
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: NBAS
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NBAS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: NBAS
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NBAS
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NBAS
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)