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Autosomal recessive primary microcephaly

MONDO:0016660

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

Also known as: true microcephaly, MCPH, microcephalia vera, microcephaly vera, microcephaly, primary autosomal recessive, microcephaly, primary, autosomal recessive

7 clinical trials for this condition and its sub-types.

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Sub-types

Microcephaly 6, primary, autosomal recessive (7) Microcephalic primordial dwarfism due to ZNF335 deficiency (0) Microcephaly 11, primary, autosomal recessive (0) Microcephaly 12, primary, autosomal recessive (0) Microcephaly 13, primary, autosomal recessive (0) Microcephaly 14, primary, autosomal recessive (0) Microcephaly 15, primary, autosomal recessive (0) Microcephaly 16, primary, autosomal recessive (0) Microcephaly 17, primary, autosomal recessive (0) Microcephaly 19, primary, autosomal recessive (0) Microcephaly 1, primary, autosomal recessive (0) Microcephaly 20, primary, autosomal recessive (0) Microcephaly 21, primary, autosomal recessive (0) Microcephaly 22, primary, autosomal recessive (0) Microcephaly 23, primary, autosomal recessive (0) Microcephaly 24, primary, autosomal recessive (0) Microcephaly 25, primary, autosomal recessive (0) Microcephaly 28, primary, autosomal recessive (0) Microcephaly 29, primary, autosomal recessive (0) Microcephaly 2, primary, autosomal recessive, with or without cortical malformations (0)

Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Human disease (14) Hereditary neurological disease (6) Autosomal recessive disease (4) Microcephaly (4) Disease of genetic or genomic mechanism (2) Autosomal genetic disease (0)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1
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