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

8 clinical trials for this condition and its sub-types, 0 tagged with Autosomal recessive primary microcephaly itself.

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Where it sits in the disease tree

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Part of

↑ Autosomal recessive disease (994) ↑ Mendelian neurodevelopmental disorder (207) ↑ Isolated congenital microcephaly (8)

Sub-types of Autosomal recessive primary microcephaly

Microcephaly with or without short stature 0 trials · 8 incl. sub-types
1 sub-type
- Microcephaly 6 with or without short stature 0 trials · 8 incl. sub-types Sub-types →
Microcephalic primordial dwarfism due to ZNF335 deficiency 0 trials
Microcephaly 1, primary, autosomal recessive 0 trials
Microcephaly 11, primary, autosomal recessive 0 trials
Microcephaly 12, primary, autosomal recessive 0 trials
Microcephaly 13, primary, autosomal recessive 0 trials
Microcephaly 14, primary, autosomal recessive 0 trials
Microcephaly 15, primary, autosomal recessive 0 trials
Microcephaly 16, primary, autosomal recessive 0 trials
Microcephaly 17, primary, autosomal recessive 0 trials
Microcephaly 19, primary, autosomal recessive 0 trials
Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 0 trials
Microcephaly 20, primary, autosomal recessive 0 trials
Microcephaly 21, primary, autosomal recessive 0 trials
Microcephaly 22, primary, autosomal recessive 0 trials
Microcephaly 23, primary, autosomal recessive 0 trials
Microcephaly 24, primary, autosomal recessive 0 trials
Microcephaly 25, primary, autosomal recessive 0 trials
Microcephaly 28, primary, autosomal recessive 0 trials
Microcephaly 29, primary, autosomal recessive 0 trials
Microcephaly 3, primary, autosomal recessive 0 trials
Microcephaly 30, primary, autosomal recessive 0 trials
Microcephaly 31, primary, autosomal recessive 0 trials
Microcephaly 4, primary, autosomal recessive 0 trials
Microcephaly 5, primary, autosomal recessive 0 trials
Microcephaly 7, primary, autosomal recessive 0 trials
Microcephaly 8, primary, autosomal recessive 0 trials
Microcephaly 9, primary, autosomal recessive 0 trials
Microcephaly with simplified gyral pattern 0 trials

Most studied deeper sub-types

Microcephaly 6, primary, autosomal recessive (8) Seckel syndrome 4 (0)

Including sub-types (8) Tagged with Autosomal recessive primary microcephaly (0)

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