TaoMedAI/RareMedData huggingface dataset:
Gene: TRIM28
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: TRIM28
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: AASS
Phenotype: Hypoornithinemia (HP:0500163)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hypoornithinemia (HP:0500163)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Hypercystinemia (HP:0500151)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Hypoplastic helices (HP:0008589)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Seizure (HP:0001250)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Seizure (HP:0001250)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Seizure (HP:0001250)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Citrullinuria (HP:0032397)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Decreased CSF arginine concentration (HP:0500204)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Decreased CSF arginine concentration (HP:0500204)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Abnormal CSF ornithine concentration (HP:0500243)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Increased CSF lysine concentration (HP:0500208)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Increased CSF lysine concentration (HP:0500208)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Tremor (HP:0001337)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Tremor (HP:0001337)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Dysmetria (HP:0001310)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Floppy infant (HP:0008947)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Poor suck (HP:0002033)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Vomiting (HP:0002013)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Homocitrullinuria (HP:0034464)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Hyperlysinemia (HP:0002161)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Elevated CSF saccharopine concentration (HP:6000270)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Poor motor coordination (HP:0002275)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Ornithinuria (HP:0003532)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Hypoplasia of the antihelix (HP:0009739)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Clumsiness (HP:0002312)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Clumsiness (HP:0002312)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Neck hypertonia (HP:0031867)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Intellectual disability, borderline (HP:0006889)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Anemia (HP:0001903)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Short stature (HP:0004322)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Short stature (HP:0004322)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Short attention span (HP:0000736)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Short attention span (HP:0000736)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Cystinuria (HP:0003131)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Cystinuria (HP:0003131)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Cystinuria (HP:0003131)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Hyperlysinuria (HP:0003297)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Argininuria (HP:0003268)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Argininuria (HP:0003268)
Associated disease: HYPERLYSINEMIA, TYPE I (OMIM:238700)
Gene: AASS
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: High palate (HP:0000218)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Growth abnormality (HP:0001507)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Abnormal circulating enzyme concentration (HP:0011021)
Associated disease: Saccharopine dehydrogenase deficiency; Saccharopinuria; Hyperlysinemia type II (ORPHA:3124)
Gene: AASS
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Strabismus (HP:0000486)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: AASS
Phenotype: Decreased urine alpha-ketoglutarate concentration (HP:0012403)
Associated disease: Lysine alpha-ketoglutarate reductase deficiency; Hyperlysinemia; Hyperlysinemia type I (ORPHA:2203)
Gene: ATP6AP2
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Motor delay (HP:0001270)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Spasticity (HP:0001257)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Inability to walk (HP:0002540)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Falls (HP:0002527)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Hypospadias (HP:0000047)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Slurred speech (HP:0001350)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Slurred speech (HP:0001350)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Dysmetria (HP:0001310)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr (OMIM:301045)
Gene: ATP6AP2
Phenotype: Agraphesthesia (HP:0011812)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Agraphesthesia (HP:0011812)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Rigidity (HP:0002063)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: PARKINSONISM WITH SPASTICITY, X-LINKED (OMIM:300911)
Gene: ATP6AP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Babinski sign (HP:0003487)
Associated disease: X-linked parkinsonism-spasticity syndrome; XPDS (ORPHA:363654)
Gene: ATP6AP2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Apraxia (HP:0002186)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)
Gene: ATP6AP2
Phenotype: Apraxia (HP:0002186)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE (OMIM:300423)
Gene: ATP6AP2
Phenotype: Echolalia (HP:0010529)
Associated disease: X-linked intellectual disability, Hedera type; MRXSH (ORPHA:93952)