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Microcephaly 18, primary, autosomal dominant(MCPH18)

MedGen UID:
1391110
•Concept ID:
C4479608
•
Disease or Syndrome
Synonym: MCPH18
 
Gene (location): WDFY3 (4q21.23)
 
Monarch Initiative: MONDO:0054593
OMIM®: 617520

Clinical features

From HPO
Intellectual disability, mild
MedGen UID:
10044
•Concept ID:
C0026106
•
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
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Intellectual disability, moderate
MedGen UID:
7680
•Concept ID:
C0026351
•
Mental or Behavioral Dysfunction
Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
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Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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