Microcephaly 18, primary, autosomal dominant(MCPH18)

MedGen UID:: 1391110
•Concept ID:: C4479608
•: Disease or Syndrome

Synonym:	MCPH18

Gene (location): Gene(s) directly associated with this condition or phenotype.	WDFY3 (4q21.23)

Monarch Initiative:	MONDO:0054593
OMIM®:	617520

Clinical features

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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.

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Microcephaly

MedGen UID:: 1644158
•Concept ID:: C4551563
•: Finding

Head circumference below 2 standard deviations below the mean for age and gender.

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Abnormal facial shape

MedGen UID:: 98409
•Concept ID:: C0424503
•: Finding

An abnormal morphology (form) of the face or its components.

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Abnormality of head or neck
- Abnormal facial shape
Abnormality of the musculoskeletal system
- Microcephaly
Abnormality of the nervous system
- Intellectual disability

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Microcephaly 18, primary, autosomal dominant(MCPH18)

Clinical features

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