Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
X-linked recessive
Xp11.22
Siderius-type syndromic intellectual developmental disorder (MRXSSD) is an X-linked disorder in which affected males have mildly impaired intellectual development, mild dysmorphic features, and bilateral or unilateral cleft lip/palate. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 300263.1 | Saudi Arabia | Male | No | No | Seizure; Intellectual disability; Motor ... Seizure; Intellectual disability; Motor delay; Delayed speech and language development; Hypertonia  | NM_015107.3:c.1460A>G | Hemizygous | X-linked, Recessive | Monies et al. 2017 |