TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6V1E1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Pachygyria (HP:0001302)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Emphysema (HP:0002097)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Gowers sign (HP:0003391)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Complete right bundle branch block (HP:0011712)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Coarse hair (HP:0002208)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Broad columella (HP:0010761)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Median cleft palate (HP:0009099)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Thick cerebral cortex (HP:0006891)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Nystagmus (HP:0000639)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Entropion (HP:0000621)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Dental crowding (HP:0000678)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Decreased body weight (HP:0004325)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Short stature (HP:0004322)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Thoracic aortic aneurysm (HP:0012727)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Dementia (HP:0000726)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Short nose (HP:0003196)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Premature sagging cheeks (HP:0034273)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Wide nasal base (HP:0012810)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Joint contracture (HP:0034392)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Patent ductus arteriosus after birth at term (HP:0011648)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Malar flattening (HP:0000272)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Malar flattening (HP:0000272)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Redundant skin (HP:0001582)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: High palate (HP:0000218)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: High palate (HP:0000218)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: High myopia (HP:0011003)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Low-set ears (HP:0000369)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Long philtrum (HP:0000343)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Small forehead (HP:0000350)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Triangular face (HP:0000325)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Pointed chin (HP:0000307)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Strabismus (HP:0000486)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Autosomal recessive cutis laxa type 2, classic type; ARCL2, Debré type; ARCL2, classic type; Autosomal recessive cutis laxa type 2, Debré type (ORPHA:357074)
Gene: ATP6V1E1
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Pes planus (HP:0001763)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V1E1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC (OMIM:617402)
Gene: ATP6V0A1
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Erratic myoclonus (HP:0025357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Poor suck (HP:0002033)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Malnutrition (HP:0004395)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Agitation (HP:0000713)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY (OMIM:619971)
Gene: ATP6V0A1
Phenotype: Delayed ability to roll over (HP:0032989)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6V0A1
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 (OMIM:619970)
Gene: ATP6AP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Seizure (HP:0001250)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)
Gene: ATP6AP1
Phenotype: Cholestasis (HP:0001396)
Associated disease: IMMUNODEFICIENCY 47 (OMIM:300972)