MMCAT is characterised by microcornea, chorioretinal atrophy, telecanthus, and posteriorly rotated ears. Age of onset is in childhood for this disorder, and it is associated with mutations in ADAMTS18 gene.
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of eye, ear, face and neck
16q23.1
MMCAT is characterised by microcornea, chorioretinal atrophy, telecanthus, and posteriorly rotated ears. Age of onset is in childhood for this disorder, and it is associated with mutations in ADAMTS18 gene.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615458.1 | United Arab Emirates | Male | Yes | Yes | Microcornea; Chorioretinal atrophy; Nyst... Microcornea; Chorioretinal atrophy; Nystagmus; Rod-cone dystrophy; Telecanthus; Low-set ears  | NM_199355.4:c.1559A>G | Homozygous | Autosomal, Recessive | Khan. 2020 | This patients has a ... |
| 615458.2.1 | Saudi Arabia | Male | Yes | Yes | Hypertension; Obesity; Abnormal renal mo... Hypertension; Obesity; Abnormal renal morphology; Visual impairment; Microcornea; Myopia; Chorioretinal atrophy; Telecanthus | NM_199355.4:c.1298C>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2020 | |
| 615458.2.2 | Saudi Arabia | Female | Yes | Yes | Hypertension; Obesity; Visual impairment... Hypertension; Obesity; Visual impairment; Microcornea; Myopia; Chorioretinal atrophy; Telecanthus | NM_199355.4:c.1298C>A | Homozygous | Autosomal, Recessive | Maddirevula et al. 2020 | Sister of 615458.2.1 |