Disease #03932

Official abbreviation CDCBM-4
Name dysplasia ,cortical, complex, with other brain malformations, type 4 (CDCBM-4)
OMIM ID 615412
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 8
Phenotype entries for this disease 8
Associated with 1 gene TUBG1
Associated tissues -
Disease features -
Remarks -


Individuals

8 entries on 1 page. Showing entries 1 - 8.
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00134040 - - - M no ? (unknown) - - 0 - - CDCBM-4 Pachygyria over the posterior frontal lobe and parieto-occipital cortex - TUBG1 1 1 Katrien Stouffs
00134041 - - - M no - - - 0 - - CDCBM-4 Agyria, diffuse - TUBG1 1 1 Katrien Stouffs
00134042 - - - F - - - - 0 - - CDCBM-4 Pachygyria diffuse, mild over frontal lobes, moderate posterior - TUBG1 1 1 Katrien Stouffs
00134043 - - - F - - - - 0 - - CDCBM-4 Pachygyria diffuse, cell sparse zone over occipital lobes - TUBG1 1 1 Katrien Stouffs
00134044 - - - F - - - - 0 - - CDCBM-4 Pachygyria diffuse, mild over frontal lobe and moderate over temporal and occipital lobes - TUBG1 1 1 Katrien Stouffs
00134045 - - - M - - - - 0 - - CDCBM-4 Pachygyria, diffuse, mild over frontal lobe and moderate over temporal and occipital lobes - TUBG1 1 1 Katrien Stouffs
00134046 - - - M - - - - 0 - - CDCBM-4 Pachygyria, nearly normal cortex over frontal lobes, pachygyria over perisylvian and occipital lobes - TUBG1 1 1 Katrien Stouffs
00134047 - - - F - - - - 0 - - CDCBM-4 Pachygyria diffuse, mild over frontal lobe, moderate over temporal > occipital lobes, bilateral deep - TUBG1 1 1 Katrien Stouffs
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