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Entry	Name	Description	Category	Gene
H00070	Galactosemia	Galactosemia (GALAC) is an autosomal recessive disorder caused by a defect in one of the enzyme genes for galactose metabolism. Newborns with the enzyme deficiency cannot properly metabolize milk sugar ...	Inherited metabolic disorder	(GALAC1) GALT [HSA:2592] [KO:K00965] (GALAC2) GALK1 [HSA:2584] [KO:K00849] (GALAC3) GALE [HSA:2582] [KO:K01784] (GALAC4) GALM [HSA:130589] [KO:K01785]
H00875	Megaloencephalic leukoencephalopathy with subcortical cysts	... [DS:H00065], Canavan disease [DS:H00074], glutaric acidemia type I [DS:H00178]) that present in infancy with megalencephaly. An autosomal recessive mutations in the MLC1 gene have been shown to cause this condition ...	Nervous system disease	(MLC1) MLC1 [HSA:23209] [KO:K20070] (MLC2A/2B) HEPACAM [HSA:220296] [KO:K23116] (MLC3) GPRC5B [HSA:51704] [KO:K04619] (MLC4) AQP4 [HSA:361] [KO:K09866]
H00878	Cystic leukoencephalopathy without megalencephaly	Cystic leukoencephalopathy without megalencephaly is an autosomal recessive infantile-onset neurological disorder. The affected individuals are asymptomatic at birth and show a static encephalopathy with ...	Inherited metabolic disorder	RNASET2 [HSA:8635] [KO:K01166]
H00978	Thrombocytopenia (THC)	Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ...	Hematologic disease	(THC1) WAS [HSA:7454] [KO:K05747] (THC2) ANKRD26 [HSA:22852] [KO:K25138] (THC3) FYB1 [HSA:2533] [KO:K17698] (THC4) CYCS [HSA:54205] [KO:K08738] (THC5) ETV6 [HSA:2120] [KO:K03211] (THC6) SRC [HSA:6714] [KO:K05704] (THC7) IKZF5 [HSA:64376] [KO:K09220] (THC8) ACTB [HSA:60] [KO:K05692] (THC9) THPO [HSA:7066] [KO:K06854] (THC10) PTPRJ [HSA:5795] [KO:K05698] (THC11) RAP1B [HSA:5908] [KO:K07836] (THC12) GNE [HSA:10020] [KO:K12409] (THC13) GALE [HSA:2582] [KO:K01784] (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182] (THAMY) MPIG6B [HSA:80739] [KO:K25640] (FPDMM) RUNX1 [HSA:861] [KO:K08367]
H01112	Polyhydramnios, megalencephaly, and symptomatic epilepsy PMSE syndrome	Polyhydramnios, megalencephaly, symptomatic epilepsy (PMSE) is a severe human developmental and epileptic syndrome caused by a homozygous partial deletion in the STRAD-alpha gene (LYK5), truncating 180 ...	Congenital malformation	STRADA [HSA:92335] [KO:K08271]
H01833	Hemimegalencephaly	Hemimegalencephaly is a rare brain malformation caused by anomalous neuronal and glial proliferation or differentiation, with an abnormally enlarged and dysplastic hemisphere. It can occur as an isolated ...	Congenital malformation
H01885	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome MPPH syndrome	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) is rare overgrowth disorder. MCAP [DS:H02153] and MPPH show very similar symptoms; the main symptoms are progressive megalencephaly ...	Congenital malformation	(MPPH1) PIK3R2 [HSA:5296] [KO:K02649] (MPPH2) AKT3 [HSA:10000] [KO:K04456] (MPPH3) CCND2 [HSA:894] [KO:K10151]
H01928	Smith-Kingsmore syndrome Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	... underlie SKS. The most consistent findings in SKS are intellectual disability (ID), developmental delay, megalencephaly, and seizures. There is moderate clinical variability, ranging from patients with macrocephaly ...	Congenital malformation	MTOR [HSA:2475] [KO:K07203]
H02010	Galactose epimerase deficiency Galactosemia III	Galactose epimerase deficiency is the least understood form of galactosemia. Originally, galactose epimerase deficiency was identified as a biochemical oddity that impacted only red and white blood cells ...	Inherited metabolic disorder	GALE [HSA:2582] [KO:K01784]
H02153	Megalencephaly-capillary malformation syndrome MCAP syndrome	Megalencephaly-capillary malformation (MCAP) syndrome is a rare overgrowth syndrome. The main symptoms are progressive megalencephaly, polymicrogyria, capillary malformations, syndactyly, and connective ...	Congenital malformation	PIK3CA [HSA:5290] [KO:K00922]
H02446	Autosomal recessive macrocephaly/megalencephaly syndrome	Autosomal recessive macrocephaly/megalencephaly syndrome (MGCPH) is characterized by intellectual disability, macro crania, and megalencephaly. Mutations in TBC1D7 were reported in patients. TBC1D7 forms ...	Congenital malformation	TBC1D7 [HSA:51256] [KO:K20396]

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