Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
9q33.2
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. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604804.1.1 | Saudi Arabia | Male | Yes | No | Dysplastic corpus callosum; Dry skin; Mi... Dysplastic corpus callosum; Dry skin; Mixed hypo- and hyperpigmentation of the skin  | NM_001011649.2:c.384_2106del, NM_001011649.3:c.140del | Heterozygous | Autosomal, Recessive | Shaheen et al. 2019 | |
| 604804.1.2 | Saudi Arabia | Female | Yes | No | Dysplastic corpus callosum; Dry skin; Mi... Dysplastic corpus callosum; Dry skin; Mixed hypo- and hyperpigmentation of the skin | NM_001011649.2:c.384_2106del, NM_001011649.3:c.140del | Heterozygous | Autosomal, Recessive | Shaheen et al. 2019 | Relative of 604804.1... |
| 604804.2 | Egypt | Female | No | Yes | Agenesis of corpus callosum; Brachycepha... Agenesis of corpus callosum; Brachycephaly; Abnormally large globe; Prominent nasal tip; Short neck; Hypoplastic pelvis; Thoracic platyspondyly | NM_001011649.3:c.4005-15A>G, NM_007018.6:c.586C>T | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | |
| 604804.3 | Saudi Arabia | Female | Yes | Yes | Delayed speech and language development;... Delayed speech and language development; Microcephaly; Short stature; Failure to thrive | NM_018249.6:c.4672C>T | Homozygous | Autosomal, Recessive | Monies et al. 2017 | |
| 604804.4 | Saudi Arabia | Neurodevelopmental delay Neurodevelopmental delay | NM_018249.6:c.1316T>A | Homozygous | Autosomal, Recessive | Monies et al. 2017 | ||||
| 604804.5.1 | Tunisia | Female | Yes | Yes | Microcephaly; Intellectual disability; S... Microcephaly; Intellectual disability; Short stature; Low-set ears; Abnormal helix morphology; Limitation of neck motion; Limited elbow movement; Scoliosis; Clinodactyly of the 5th finger; Mixed hearing impairment; Interhypothalamic adhesion; Thick corpus callosum; Hyperpigmentation of the fundus | NM_018249.6:c.564_565dup | Heterozygous, Homozygous | Autosomal, Recessive | Ben Ayed et al. 2021 | Patient "P3" in the ... |