TaoMedAI/RareMedData huggingface dataset:
Gene: ITK
Phenotype: Persistent EBV viremia (HP:0020072)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Lymphoproliferative disorder (HP:0005523)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Recurrent fever (HP:0001954)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Anemia (HP:0001903)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Childhood onset (HP:0011463)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Stomatitis (HP:0010280)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Autoimmunity (HP:0002960)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Splenomegaly (HP:0001744)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Autoimmune hemolytic anemia (HP:0001890)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: ITK
Phenotype: Pancytopenia (HP:0001876)
Associated disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Gene: STT3A
Phenotype: High anterior hairline (HP:0009890)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Hypertonia (HP:0001276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Small scrotum (HP:0000046)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Micropenis (HP:0000054)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Osteoarthritis (HP:0002758)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Muscle spasm (HP:0003394)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Middle age onset (HP:0003596)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Long ear (HP:0400004)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Young adult onset (HP:0011462)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Long face (HP:0000276)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Gene: STT3A
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: Congenital disorder of glycosylation type 1w; CDG syndrome type Iw; CDG-Iw; Congenital disorder of glycosylation type Iw; STT3A-CDG; CDG1W (ORPHA:370921)
Gene: STT3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: STT3A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Gene: ITPA
Phenotype: Elevated erythrocyte inosine triphosphate concentration (HP:6000510)
Associated disease: INOSINE TRIPHOSPHATASE DEFICIENCY (OMIM:613850)
Gene: ITPA
Phenotype: Reduced erythrocyte inosine triphosphatase activity (HP:6000511)
Associated disease: INOSINE TRIPHOSPHATASE DEFICIENCY (OMIM:613850)
Gene: ITPA
Phenotype: Encephalopathy (HP:0001298)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INOSINE TRIPHOSPHATASE DEFICIENCY (OMIM:613850)
Gene: ITPA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Status epilepticus (HP:0002133)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Limb tremor (HP:0200085)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Irritability (HP:0000737)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Death in infancy (HP:0001522)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Brain atrophy (HP:0012444)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPA
Phenotype: Cataract (HP:0000518)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 35 (OMIM:616647)
Gene: ITPR1
Phenotype: Poor speech (HP:0002465)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Nonprogressive cerebellar ataxia (HP:0002470)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Dyscalculia (HP:0002442)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Cerebellar ataxia associated with quadrupedal gait (HP:0009878)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Poor head control (HP:0002421)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Poor head control (HP:0002421)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Bruxism (HP:0003763)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Long-tract sign (HP:0002423)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Myokymia (HP:0002411)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Motor delay (HP:0001270)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Motor delay (HP:0001270)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Seizure (HP:0001250)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Seizure (HP:0001250)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Ataxia (HP:0001251)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Ataxia (HP:0001251)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Ataxia (HP:0001251)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Atrophy/Degeneration affecting the cerebrum (HP:0007369)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Upper limb postural tremor (HP:0007351)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hypermetric saccades (HP:0007338)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Inability to walk (HP:0002540)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Inability to walk (HP:0002540)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Slurred speech (HP:0001350)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Slurred speech (HP:0001350)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)