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Longer titles found: Hemimegalencephaly (view)

searching for Megalencephaly 6 found (20 total)

Macrocephaly-capillary malformation (1,678 words) [view diff] exact match in snippet view article find links to article

a paper proposed new names for the syndrome: megalencephaly-capillary malformation or megalencephaly-capillary malformation-polymicrogyria with an abbreviation

PIK3CA-related overgrowth spectrum (487 words) [view diff] exact match in snippet view article find links to article

infiltrating lipomatosis Macrocephaly-capillary malformation Dysplastic megalencephaly Klippel–Trénaunay syndrome PIK3CA gene codes for p110α protein which

List of diseases (F) (924 words) [view diff] exact match in snippet view article

Flynn–Aird syndrome Focal agyria pachygyria Focal alopecia congenital megalencephaly Focal dermal hypoplasia Focal dystonia Focal facial dermal dysplasia

List of diseases (M) (2,469 words) [view diff] exact match in snippet view article

Megaduodenum Mega-epiphyseal dwarfism Megalencephalic leukodystrophy Megalencephaly-cystic leukodystrophy Megaloblastic anemia Megalocornea mental retardation

HERC1 (1,523 words) [view diff] exact match in snippet view article find links to article

nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy". Eur J Hum Genet. 24

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

vanishing white matter; 603896; EIF2B5 Leukoencephalopathy, cystic, without megalencephaly; 612951; RNASET2 Leukoencephaly with vanishing white matter; 603896;