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hypomyelinating leukodystrophy 5

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.
Uniprot Description A hypomyelinating leukodystrophy associated with congenital cataract. It is clinically characterized by congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency. Affected individuals experience progressive pyramidal and cerebellar dysfunction, muscle weakness and wasting prevailingly in the lower limbs. Mental deficiency ranges from mild to moderate. HLD5 shows clinical variability, but features of hypomyelination combined with increased periventricular white matter water content are consistently observed.
Mondo Term and Equivalent IDs
MONDO:0012514:  hypomyelinating leukodystrophy 5
GARD:0011980: 
MESH:C567166: 
Orphanet:85163: 
SCTID:702379005: 
UMLS:C1864663: