Disease #05052 (HLD6;HABC (leukodystrophy, hypomyelinating, type 6 (HLD-6, HABC)), OMIM:612438)

Official abbreviation HLD6;HABC
Name leukodystrophy, hypomyelinating, type 6 (HLD-6, HABC)
OMIM ID 612438
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene TUBB4A
Associated tissues -
Disease features autosomal dominant
Remarks -
Date created 2015-09-23 11:00:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00328551 175034 - - F ? Germany - - - - - HLD6;HABC Developmental disorder (motoric) with hypotonic-dystonic pattern of movement, cMRI shows generalized hypomyelination TUBB4A TUBB4A 1 1 Andreas Laner
00450467 293733 - - F ? ? (unknown) - - - - - HLD6;HABC Failure to thrive, Short stature, Microcephaly, Premature birth, Neurodevelopmental delay TUBB4A TUBB4A 1 1 Andreas Laner
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