Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the urinary system
Autosomal recessive
12q21.32
Meckel syndrome is an autosomal recessive pre- or perinatal lethal disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically occipital encephalocele), hepatic ductal dysplasia and cysts, and postaxial polydactyly. [From OMIM]
MKS4 is associated with mutations in CEP290 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 611134.1 | Saudi Arabia | Female | Yes | Global developmental delay; Oculomotor a... Global developmental delay; Oculomotor apraxia; Molar tooth sign on MRI; Retinal dystrophy  | NM_025114.4:c.5668G>T | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 | ||
| 611134.2 | United Arab Emirates | Female | Yes | Intrauterine growth retardation; Microce... Intrauterine growth retardation; Microcephaly; Occipital encephalocele; Anencephaly | NM_025114.4:c.1860_1863del | Homozygous | Autosomal, Recessive | Maddirevula et al. 2018 |