Disease #01062 (MCAHS2;GPIBD4 (multiple congenital anomalies, hypotonia, seizures syndrome, type 2 (MCAHS-2, glycosylphosphatidylinositol deficiency, type 4 (GPIBD-4))), OMIM:300868)
Official abbreviation |
MCAHS2;GPIBD4 |
Name |
multiple congenital anomalies, hypotonia, seizures syndrome, type 2 (MCAHS-2, glycosylphosphatidylinositol deficiency, type 4 (GPIBD-4)) |
OMIM ID |
300868 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
X-linked recessive |
Individuals reported having this disease |
14 |
Phenotype entries for this disease |
13 |
Associated with 1 gene |
PIGA |
Associated tissues |
- |
Disease features |
X-linked recessive |
Remarks |
- |
Individuals
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