Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
4q28.1
Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616171.1.1 | Saudi Arabia | Female | Yes | Yes | Intrauterine growth retardation; Sloping... Intrauterine growth retardation; Sloping forehead; Prominent nose; Proptosis; Prominent metopic ridge; Optic nerve hypoplasia; Strabismus; Short long bone; Microcephaly; Global developmental delay; Severe short stature; Micrognathia  | NM_014264.5:c.1299_1303del | Homozygous | Autosomal, Recessive | Shaheen et al. 2019; Shaheen et al. 2014 | Index patient |
| 616171.1.2 | Saudi Arabia | Male | Yes | Yes | Intrauterine growth retardation; Microce... Intrauterine growth retardation; Microcephaly; Global developmental delay; Severe short stature; Sloping forehead; Prominent nose; Proptosis; Micrognathia; Optic nerve hypoplasia; Strabismus | NM_014264.5:c.1299_1303del | Homozygous | Autosomal, Recessive | Shaheen et al. 2019; Shaheen et al. 2014 | Full brother of 6161... |
| 616171.1.3 | Saudi Arabia | Female | Yes | Yes | Intrauterine growth retardation; Microce... Intrauterine growth retardation; Microcephaly; Global developmental delay; Severe short stature; Sloping forehead; Prominent nose; Proptosis; Micrognathia; Optic nerve hypoplasia; Strabismus | NM_014264.5:c.1299_1303del | Homozygous | Autosomal, Recessive | Shaheen et al. 2014 | Paternal half-sister... |