Endocrine, nutritional and metabolic diseases
Metabolic disorders
X-linked recessive
Xq28
Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 300036.1 | Lebanon | Male | Intellectual disability; Global develo... Intellectual disability; Global developmental delay; Failure to thrive; Microcephaly; Seizure  | NM_005629.4:c.1661C>T | Hemizygous | X-linked, Recessive | Nair et al. 2018 |