TaoMedAI/RareMedData huggingface dataset:
Gene: ERCC8
Phenotype: Retinal hemorrhage (HP:0000573)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Hypermetropia (HP:0000540)
Associated disease: COCKAYNE SYNDROME A (OMIM:216400)
Gene: ERCC8
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: ERCC8
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cockayne syndrome type III; Cockayne syndrome type 3 (ORPHA:90324)
Gene: AP2M1
Phenotype: Syndactyly (HP:0001159)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Thick nasal alae (HP:0009928)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Atypical absence seizure (HP:0007270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: EEG with spike-wave complexes (HP:0010850)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Hypotonia (HP:0001252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Ataxia (HP:0001251)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Abnormal emotional state (HP:0100851)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Tremor (HP:0001337)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Tremor (HP:0001337)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Myoclonus (HP:0001336)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Wide mouth (HP:0000154)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Chorea (HP:0002072)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Frontal balding (HP:0002292)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Hyperplasia of the maxilla (HP:0430028)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Broad philtrum (HP:0000289)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Microcephaly (HP:0000252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Long philtrum (HP:0000343)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: EEG with focal spike waves (HP:0011197)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Generalized myoclonic-atonic seizure (HP:0011170)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Absence seizure with eyelid myoclonia (HP:0011149)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Gene: AP2M1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP2M1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: AP1S1
Phenotype: Volvulus (HP:0002580)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Death in childhood (HP:0003819)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Neonatal death (HP:0003811)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Cholestasis (HP:0001396)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Cirrhosis (HP:0001394)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Diarrhea (HP:0002014)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Decreased circulating copper concentration (HP:0011967)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Decreased circulating ceruloplasmin concentration (HP:0010837)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Erythema (HP:0010783)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Microcolon (HP:0004388)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Gene: AP1S1
Phenotype: Death in infancy (HP:0001522)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Jejunal atresia (HP:0005235)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Cataract (HP:0000518)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)
Gene: AP1S1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA (OMIM:609313)