Phenotype #0000359911

Individual ID	00475197
Associated disease	?
Diagnosis/Initial	hypomyelinating leukodystrophy, epileptic encephalopathy
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth uncomplicated; failure to thrive; 1y-feeding difficulties; 6m-developmental delay; 1y-regression; profound intellectual disability; motor function head control, floor mobility; fine motor function batting/reaching; communication vocalization; 1y-single words; 22m-seizures; spasticity; axial hypotonia; no dystonia; no opisthotonos; spastic tetraparesis; no myoclonus; no limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; no peripheral neuropathy; no bone dysplasia; hip dislocation; scoliosis; no autonomic issues; no irritability; no skin abnormalities; hypopigmentation (fairer than family); no ocular albinism; no unexplained rashes; no gastroesophageal reflux disease; swallowing difficulties; feeding tube; liver dysfunction increased transaminases; no inflammatory bowel disease; anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; no nystagmus; strabismus; no retinal anomalies; optic atrophy; dysmorphic facial features; teeth excessive cavities; no hearing impairment; no immunological issues, no allergy, no recurrent infections; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-04-03 18:19:38 +02:00 (CEST)
Date last edited	N/A