megalencephaly-capillary malformation-polymicrogyria syndrome
A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.
MONDO:0018719
obsolete obsolete rare capillary malformation with associated anomalies (obsolete MONDO:0018719)
excluded_subClassOf
MONDO:0019293
skin vascular disease
excluded_subClassOf
MONDO:0100283
overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
is_a
MONDO:0100545
hereditary neurological disease
is_a
MONDO:1040002
PIK3CA-related overgrowth spectrum
is_a
M-CM
related
M-CMTC
related
MCAP
exact
MCM
exact
MCMTC
exact
Megalencephaly-Capillary Malformation
exact
macrocephaly cutis marmorata telangiectatica congenita
related
macrocephaly-capillary malformation syndrome
exact
macrocephaly-cutis marmorata telangiectatica congenita syndrome
exact
megalencephaly cutis marmorata telangiectatica congenita
related
megalencephaly-capillary malformation syndrome
exact
megalencephaly-capillary malformation-polymicrogyria syndrome
exact
megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
exact
megalencephaly-cutis marmorata telangiectatica congenita syndrome
exact
megalocephaly cutis marmorata telangiectatica congenita
related