TaoMedAI/RareMedData huggingface dataset:
Gene: CASK
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: CASK
Phenotype: Ureterocele (HP:0000070)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Micropenis (HP:0000054)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Dystonia (HP:0001332)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Dystonia (HP:0001332)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Absent speech (HP:0001344)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Tremor (HP:0001337)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Myoclonus (HP:0001336)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Pachygyria (HP:0001302)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Pachygyria (HP:0001302)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Scoliosis (HP:0002650)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Scoliosis (HP:0002650)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Cleft palate (HP:0000175)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Floppy infant (HP:0008947)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Floppy infant (HP:0008947)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: FG SYNDROME 4 (OMIM:300422)
Gene: CASK
Phenotype: Poor suck (HP:0002033)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Dysphagia (HP:0002015)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
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: CASK
Phenotype: Rigidity (HP:0002063)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
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: CASK
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: CASK
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
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: CASK
Phenotype: Episodic ataxia (HP:0002131)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Middle age onset (HP:0003596)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Infantile onset (HP:0003593)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
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: CASK
Phenotype: Intermittent hyperventilation (HP:0004879)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
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: CASK
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Proportionate short stature (HP:0003508)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Heinz bodies (HP:0020082)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Fava bean-induced hemolytic anemia (HP:0004814)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
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: CASK
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: EEG abnormality (HP:0002353)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Unsteady gait (HP:0002317)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
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: CASK
Phenotype: Dyskinesia (HP:0100660)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Dyskinesia (HP:0100660)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
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: CASK
Phenotype: Abnormally large globe (HP:0001090)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Hemoglobinuria (HP:0003641)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Juvenile onset (HP:0003621)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Nystagmus (HP:0000639)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Optic atrophy (HP:0000648)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Fever (HP:0001945)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Autistic behavior (HP:0000729)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Broad phalanx of the toes (HP:0010174)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Young adult onset (HP:0011462)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Short nose (HP:0003196)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Short nose (HP:0003196)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Pallor (HP:0000980)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Jaundice (HP:0000952)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Short finger (HP:0009381)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Epicanthus (HP:0000286)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Retrognathia (HP:0000278)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Microcephaly (HP:0000252)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Broad finger (HP:0001500)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY (OMIM:300908)
Gene: CASK
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Sloping forehead (HP:0000340)
Associated disease: EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Early infantile epileptic encephalopathy; Ohtahara syndrome (ORPHA:1934)
Gene: CASK
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Long philtrum (HP:0000343)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Broad forehead (HP:0000337)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)
Gene: CASK
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (OMIM:300749)
Gene: CASK
Phenotype: Micrognathia (HP:0000347)
Associated disease: X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome; MICPCH; X-linked intellectual disability, Najm type (ORPHA:163937)