TaoMedAI/RareMedData huggingface dataset:
Gene: ATP6V1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Global developmental delay (HP:0001263)
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: ATP6V1A
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Spasticity (HP:0001257)
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: ATP6V1A
Phenotype: Abnormal circulating apolipoprotein concentration (HP:0025201)
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: ATP6V1A
Phenotype: Thick hair (HP:0100874)
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: ATP6V1A
Phenotype: Excessive wrinkled skin (HP:0007392)
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: ATP6V1A
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Abnormality of the intrinsic pathway (HP:0010989)
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: ATP6V1A
Phenotype: Inability to walk (HP:0002540)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Congenital hip dislocation (HP:0001374)
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: ATP6V1A
Phenotype: Micropenis (HP:0000054)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Inguinal hernia (HP:0000023)
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: ATP6V1A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Postnatal growth retardation (HP:0008897)
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: ATP6V1A
Phenotype: Abnormal subcutaneous fat tissue distribution (HP:0007552)
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: ATP6V1A
Phenotype: Prominent veins on trunk (HP:0007457)
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: ATP6V1A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Lissencephaly (HP:0001339)
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: ATP6V1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Tremor (HP:0001337)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Myoclonus (HP:0001336)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
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: ATP6V1A
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: ATP6V1A
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
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: ATP6V1A
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: ATP6V1A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
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: ATP6V1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Rigidity (HP:0002063)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Gliosis (HP:0002171)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Impulsivity (HP:0100710)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
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: ATP6V1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Iris coloboma (HP:0000612)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Entropion (HP:0000621)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
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: ATP6V1A
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: ATP6V1A
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: ATP6V1A
Phenotype: Joint contracture (HP:0034392)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Cutis laxa (HP:0000973)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Retrognathia (HP:0000278)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Mask-like facies (HP:0000298)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Redundant skin (HP:0001582)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
Phenotype: Low-set ears (HP:0000369)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID (OMIM:617403)
Gene: ATP6V1A
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: ATP6V1A
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: ATP6V1A
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93 (OMIM:618012)