TaoMedAI/RareMedData huggingface dataset:
Gene: PIK3R1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Macrotia (HP:0000400)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Astigmatism (HP:0000483)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Megalocornea (HP:0000485)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Splenomegaly (HP:0001744)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Chronic intestinal candidiasis (HP:0005411)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Cataract (HP:0000518)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Weight loss (HP:0001824)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Telecanthus (HP:0000506)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease:  (ORPHA:693681)
Gene: PIK3R1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Glaucoma (HP:0000501)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Lipodystrophy-Rieger anomaly-diabetes syndrome; SHORT syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Gene: PIK3R1
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Increased transitional B cell proportion (HP:0030381)
Associated disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Gene: PIK3R1
Phenotype: Esotropia (HP:0000565)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PIK3R1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PIK3R1
Phenotype: Myopia (HP:0000545)
Associated disease: SHORT SYNDROME (OMIM:269880)
Gene: PIK3R1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Agammaglobulinemia, non-Bruton type; Autosomal agammaglobulinemia (ORPHA:33110)
Gene: PIK3R1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Gene: PIK3R2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Seizure (HP:0001250)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Seizure (HP:0001250)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Typically de novo (HP:0025352)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Pachygyria (HP:0001302)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Vascular ring (HP:0010775)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Blindness (HP:0000618)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Kyphosis (HP:0002808)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Overgrowth (HP:0001548)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: High forehead (HP:0000348)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PIK3R2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: PIK3R2
Phenotype: Ptosis (HP:0000508)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 (OMIM:603387)
Gene: PI4KA
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Language impairment (HP:0002463)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Psoriasiform dermatitis (HP:0003765)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Congenital pulmonary airway malformation (HP:0010959)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Cervical spinal cord atrophy (HP:0010873)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Hypertonia (HP:0001276)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Head titubation (HP:0002599)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Seizure (HP:0001250)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Ataxia (HP:0001251)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Dysarthria (HP:0001260)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Spasticity (HP:0001257)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Gastrointestinal atresia (HP:0002589)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Abnormal ductus choledochus morphology (HP:0100889)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: EEG with frontal focal spikes (HP:0012015)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: EEG with parietal focal spikes (HP:0012017)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: EEG with central focal spikes (HP:0012014)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Facial diplegia (HP:0001349)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Femoral retroversion (HP:0008796)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Dystonia (HP:0001332)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Bilateral perisylvian polymicrogyria (HP:0032407)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Dysmetria (HP:0001310)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Dysmetria (HP:0001310)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Rectovaginal fistula (HP:0000143)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Hepatitis (HP:0012115)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Floppy infant (HP:0008947)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Recurrent abscess formation (HP:0002722)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Dysphagia (HP:0002015)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Intention tremor (HP:0002080)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Ectopic posterior pituitary (HP:0011755)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Gene: PI4KA
Phenotype: Peritoneal abscess (HP:0100592)
Associated disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Gene: PI4KA
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Gene: PI4KA
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Gene: PI4KA
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Gene: PI4KA
Phenotype: Apnea (HP:0002104)
Associated disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)