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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
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.

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