Disease #00382 (MCAP (megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (MCAP)), OMIM:602501)

Official abbreviation MCAP
Name megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (MCAP)
OMIM ID 602501
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene PIK3CA
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Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00016593 patient PubMed: Döcker 2015, Journal: Döcker 2015 - M yes Turkey Turkish - 0 - - MCAP, NS features: - megalencephaly - cerebellar tonsillar ectopia - abnormal thick corpus callosum - congenital somatic overgrowth - somatic asymmetry/hemihypertrophy - cutaneous capillary malformations: midline facial naevus flammeus, cutis marmorata - syndactyly - postaxial polydactyly - hypotonia - developmental delay - frontal bossing AKT3, PIK3CA, PIK3R2 PIK3CA, PTPN11 2 1 Dennis Döcker
00296465 114162 - - M ? Germany - - 0 - - MCAP HPO:0012638 Abnormality of nervous system physiology;HPO:0000238 Hydrocephalus;HPO:0002921 Abnormality of the cerebrospinal fluid;HPO:0001270 Motor delay;HPO:0000240 Abnormality of skull size;HPO:0000256 Macrocephaly AKT3 AKT3 1 1 Andreas Laner
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