TaoMedAI/RareMedData huggingface dataset:
Gene: ITPR1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Myoclonus (HP:0001336)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Dysmetria (HP:0001310)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Scoliosis (HP:0002650)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Short fourth metatarsal (HP:0004689)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Intention tremor (HP:0002080)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Gowers sign (HP:0003391)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Chorea (HP:0002072)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal eye contact (HP:0034435)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed ability to crawl (HP:0033128)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Scanning speech (HP:0002168)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Scanning speech (HP:0002168)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Clonus (HP:0002169)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Postural tremor (HP:0002174)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Postural tremor (HP:0002174)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Echolalia (HP:0010529)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed ability to walk with support (HP:0033257)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Cerebellar cortical atrophy (HP:0008278)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Infantile onset (HP:0003593)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Congenital onset (HP:0003577)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Late onset (HP:0003584)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Adult onset (HP:0003581)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Bilateral facial palsy (HP:0430025)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Esodeviation (HP:0020045)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Exodeviation (HP:0020049)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Difficulty standing (HP:0003698)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Developmental regression (HP:0002376)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Action tremor (HP:0002345)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Action tremor (HP:0002345)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Action tremor (HP:0002345)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Head tremor (HP:0002346)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Head tremor (HP:0002346)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Aplasia of the pectoralis major muscle (HP:0009751)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Drooling (HP:0002307)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Miosis (HP:0000616)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Peroneal muscle atrophy (HP:0009049)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Short stature (HP:0004322)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Enuresis (HP:0000805)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Poor appetite (HP:0004396)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Depression (HP:0000716)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Elfin facies (HP:0004428)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Flat forehead (HP:0004425)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Abnormal motor evoked potentials (HP:0012896)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Kyphosis (HP:0002808)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: High palate (HP:0000218)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Imperforate hymen (HP:0030011)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Growth delay (HP:0001510)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Increased overbite (HP:0011094)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Slowed horizontal saccades (HP:0007885)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Congenital horizontal nystagmus (HP:0007859)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormality of peripheral nervous system electrophysiology (HP:0030177)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Tremor by anatomical site (HP:0030188)
Associated disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Gene: ITPR1
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Truncus arteriosus (HP:0001660)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Truncal titubation (HP:0030147)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Continuous spike and waves during slow sleep (HP:0031491)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal flash visual evoked potentials (HP:0007928)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Gaze-evoked horizontal nystagmus (HP:0007979)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Strabismus (HP:0000486)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Delayed early-childhood social milestone development (HP:0012434)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Prominent nose (HP:0000448)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Aniridia (HP:0000526)
Associated disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Gene: ITPR1
Phenotype: Aniridia (HP:0000526)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Aniridia (HP:0000526)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Ptosis (HP:0000508)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Ptosis (HP:0000508)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Visual impairment (HP:0000505)
Associated disease: GILLESPIE SYNDROME (OMIM:206700)
Gene: ITPR1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Keratoconus (HP:0000563)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Leukocoria (HP:0000555)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hypometric saccades (HP:0000571)
Associated disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Gene: ITPR1
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Gene: ITPR1
Phenotype: Esotropia (HP:0000565)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Gene: ITPR2
Phenotype: Generalized anhidrosis (HP:0007459)
Associated disease: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS (OMIM:106190)
Gene: ITPR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS (OMIM:106190)
Gene: ITPR2
Phenotype: Heat intolerance (HP:0002046)
Associated disease: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS (OMIM:106190)