Phenotype #0000359914

Individual ID	00475200
Associated disease	?
Diagnosis/Initial	hypomyelinating leukodystrophy, epileptic encephalopathy
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth uncomplicated; failure to thrive; 1m-feeding difficulties; no regression; profound intellectual disability; motor function head control, floor mobility, independent sitting; no fine motor function; no communication; 2y-seizures; spasticity; no axial hypotonia; dystonia hands/feet; opisthotonos; spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; dyskinetic movements; stable movement disorder; no peripheral neuropathy; no bone dysplasia; hip dislocation; scoliosis; no autonomic issues; irritability; no skin abnormalities; no hypopigmentation; mild ocular albinism; no unexplained rashes; gastroesophageal reflux disease; swallowing difficulties; feeding tube; liver dysfunction increased transaminases; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; no cardiovascular issues; no respiratory failure; no pulmonary fibrosis; cortical visual impairment; nystagmus; strabismus; albinotic optic disc, arteriolar narrowing; optic atrophy; dysmorphic facial features; teeth enamel hypoplasia, excessive cavities, gingivitis; no hearing impairment; pneumonia; no kidney disease; no endocrine disorders; normal hair, normal nails, normal teeth
Inheritance	Familial, autosomal recessive
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	1m
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