Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the nervous system
Autosomal recessive
1p31.3
Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate. Other variable features have been observed, including ocular, skeletal, cardiac, and renal anomalies. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 619648.1.1 | United Arab Emirates | Female | Yes | Global developmental delay; Short statur... Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly  | NM_024911.7:c.1175A>G | Homozygous | Autosomal, Recessive | Chai et al. 2021 | Patient from 'family... | |
| 619648.1.2 | United Arab Emirates | Female | Yes | Global developmental delay; Short statur... Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | NM_024911.7:c.1175A>G | Homozygous | Autosomal, Recessive | Chai et al. 2021 | Sister of 619648.1.1 | |
| 619648.1.3 | United Arab Emirates | Female | Yes | Global developmental delay; Short statur... Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | NM_024911.7:c.1175A>G | Homozygous | Autosomal, Recessive | Chai et al. 2021 | Sister of 619648.1.1 | |
| 619648.1.4 | United Arab Emirates | Female | Yes | Global developmental delay; Short statur... Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly; Cerebellar vermis hypoplasia; Dilated fourth ventricle | NM_024911.7:c.1175A>G | Homozygous | Autosomal, Recessive | Chai et al. 2021 | Sister of 619648.1.1 | |
| 619648.1.5 | United Arab Emirates | Male | Yes | Global developmental delay; Short statur... Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Toe syndactyly | NM_024911.7:c.1175A>G | Homozygous | Autosomal, Recessive | Chai et al. 2021 | Brother of 619648.1.... | |
| 619648.2.1 | Egypt | Female | Yes | Global developmental delay; Short statur... Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum | NM_024911.7:c.1433A>G | Homozygous | Autosomal, Recessive | Chai et al. 2021 | Patient from 'family... | |
| 619648.2.2 | Egypt | Female | Yes | Global developmental delay; Short statur... Global developmental delay; Short stature; Microcephaly; Cupped ear; Sparse eyebrow; Visual impairment; Iris coloboma; Hypoplasia of the corpus callosum; Ectrodactyly; Cerebellar vermis hypoplasia | NM_024911.7:c.1433A>G | Homozygous | Autosomal, Recessive | Chai et al. 2021 | Sister of 619648.2.1 |