Microcephaly 19, primary, autosomal recessive(MCPH19)

MedGen UID:: 1616860
•Concept ID:: C4540488
•: Disease or Syndrome

Synonyms:	MCPH19; MICROCEPHALY 19, PRIMARY, AUTOSOMAL RECESSIVE

Gene (location): Gene(s) directly associated with this condition or phenotype.	COPB2 (3q23)

Monarch Initiative:	MONDO:0054716
OMIM®:	617800

Definition

Autosomal recessive primary microcephaly-19 (MCPH19) is a rare congenital brain defect resulting in a reduction of occipitofrontal head circumference by at least 3 standard deviations, severe developmental delay, failure to thrive, cortical blindness, and spasticity (DiStasio et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (251200). [from OMIM]

Clinical features

From HPO

Failure to thrive in infancy

MedGen UID:: 358083
•Concept ID:: C1867873
•: Finding

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Abnormality of body height

MedGen UID:: 871403
•Concept ID:: C4025901
•: Finding

Deviation from the norm of height with respect to that which is expected according to age and gender norms.

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Decreased body weight

MedGen UID:: 1806755
•Concept ID:: C5574742
•: Finding

Abnormally low body weight.

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Spasticity

MedGen UID:: 7753
•Concept ID:: C0026838
•: Sign or Symptom

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

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Hypoplasia of the corpus callosum

MedGen UID:: 138005
•Concept ID:: C0344482
•: Congenital Abnormality

Underdevelopment of the corpus callosum.

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Severe global developmental delay

MedGen UID:: 332436
•Concept ID:: C1837397
•: Finding

A severe delay in the achievement of motor or mental milestones in the domains of development of a child.

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Simplified gyral pattern

MedGen UID:: 413664
•Concept ID:: C2749675
•: Finding

An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly.

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Ventriculomegaly