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macrocephaly/megalencephaly syndrome, autosomal recessive | RareConnect | RareConnect.io

/megalencephaly

/hereditary neurological disease

/macrocephaly/megalencephaly syndrome, autosomal recessive

macrocephaly/megalencephaly syndrome, autosomal recessive

Rare Disease

MONDO:0009544

Also Known As

macrocephaly/megalencephaly syndrome, autosomal recessiveFryns Dereymaeker Haegeman syndromeMGCPHintellectual disability, macrocephaly, short stature and craniofacial dysmorphismmental retardation, macrocephaly, short stature and craniofacial dysmorphism

Patient-Friendly Information

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:248000 ↗

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