Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
2q14.2
Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 210710.G.1 | Saudi Arabia | Yes | Yes | Short stature; Primary microcephaly; I... Short stature; Primary microcephaly; Intellectual disability; Hydronephrosis; Ichthyosis  | NR_023343.1:n.13C>T, NR_023343.1:n.46G>A | Heterozygous | Autosomal, Recessive | Maddirevula et al. 2018 | Three related patien... |