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Disease

Microcephaly 1, primary, autosomal recessive

Also known as MCPH1 autosomal recessive primary microcephaly, autosomal recessive primary microcephaly caused by mutation in MCPH1, MCPH1, PCC syndrome+3 more

MCPH1 autosomal recessive primary microcephaly, autosomal recessive primary microcephaly caused by mutation in MCPH1, MCPH1, PCC syndrome, premature chromosome condensation syndrome, premature chromosome condensation with microcephaly and intellectual disability, premature chromosome condensation with microcephaly and mental retardation.

5
Associated genes
1
Related proteins

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Associated genes

5 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Reference

Authoritative identity, definition & identifiers.

Synonyms

MCPH1 autosomal recessive primary microcephaly, autosomal recessive primary microcephaly caused by mutation in MCPH1, MCPH1, PCC syndrome, premature chromosome condensation syndrome, premature chromosome condensation with microcephaly and intellectual disability, premature chromosome condensation with microcephaly and mental retardation

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.