Alpha-thalassemia mental retardation syndrome <unk><unk> , also called alpha-thalassemia<unk> -linked intellectual disability syndrome, nondeletion type or<unk> , is an<unk> -linked recessive condition associated with a mutation in the<unk><unk>  gene. Males with this condition tend to be moderately intellectually disabled and have physical characteristics including coarse facial features, microcephaly (small head size), hypertelorism (widely spaced eyes), a depressed nasal bridge, a tented upper lip and an everted lower lip. Mild or moderate anemia, associated with alpha-thalassemia, is part of the condition. Females with this mutated gene have no specific signs or features, but if they do, they may demonstrate skewed<unk>  chromosome inactivation.<unk>  can also come with problems regulating Co2 Levels and normal bodily temperature regulation, the cause of this is widely debated but currently unknown, many children with<unk> -X may need oxygen support long term through their entire life but cases that require long term oxygen are rare, however many children with<unk> -x will require help with feeding such and NG/NJ tube feeding, this is not present in all cases however. Many children will also experience severe reflux issues and may require regular medical suction procedures.
ATR-X syndrome
ATR-16 syndrome
MEDNIK syndrome
ZTTK syndrome
LIG4 syndrome
Treacher Collins syndrome
Cockayne syndrome
GAPO syndrome