TaoMedAI/RareMedData huggingface dataset:
Gene: ARX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Dysarthria (HP:0001260)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Global developmental delay (HP:0001263)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Spasticity (HP:0001257)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Spasticity (HP:0001257)
Associated disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Gene: ARX
Phenotype: Spasticity (HP:0001257)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Spasticity (HP:0001257)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Testicular dysgenesis (HP:0008715)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Facial telangiectasia (HP:0007380)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: ARX
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Erratic myoclonus (HP:0025357)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Flexion contracture (HP:0001371)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Micropenis (HP:0000054)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Micropenis (HP:0000054)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Macroorchidism (HP:0000053)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Hypospadias (HP:0000047)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Hypospadias (HP:0000047)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Specific learning disability (HP:0001328)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: ARX
Phenotype: Pachygyria (HP:0001302)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Pachygyria (HP:0001302)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Scoliosis (HP:0002650)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Scoliosis (HP:0002650)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Malabsorption (HP:0002024)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Diarrhea (HP:0002014)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Dysphagia (HP:0002015)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Dyspnea (HP:0002094)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Rigidity (HP:0002063)
Associated disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Gene: ARX
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Status epilepticus (HP:0002133)
Associated disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Gene: ARX
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Gliosis (HP:0002171)
Associated disease: LISSENCEPHALY, X-LINKED, 2 (OMIM:300215)
Gene: ARX
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: X-linked lissencephaly with abnormal genitalia; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome (ORPHA:452)
Gene: ARX
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Gene: ARX
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: ARX
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: Hirsutism (HP:0001007)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: EEG abnormality (HP:0002353)
Associated disease: X-linked intellectual disability-dystonia-dysarthria syndrome; Partington syndrome; Partington-Mulley syndrome (ORPHA:94083)
Gene: ARX
Phenotype: EEG abnormality (HP:0002353)
Associated disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309510)
Gene: ARX
Phenotype: Diffuse white matter abnormalities (HP:0007204)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Dyskinesia (HP:0100660)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: ARX
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Hemiplegia (HP:0002301)
Associated disease: X-linked spasticity-intellectual disability-epilepsy syndrome (ORPHA:3175)
Gene: ARX
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1 (OMIM:308350)
Gene: ARX
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Nystagmus (HP:0000639)
Associated disease: Proud-Levine-Carpenter syndrome; Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome; ACC-abnormal genitalia syndrome; Proud syndrome; Corpus callosum agenesis-abnormal genitalia syndrome (ORPHA:2508)
Gene: ARX
Phenotype: Nystagmus (HP:0000639)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)
Gene: ARX
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (OMIM:300419)
Gene: ARX
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA (OMIM:300004)