Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
3p21.33
CDS is a lipid storage disorder characterized by congenital ichthyosis and the accumulation of lipid vacuoles in leukocytes (also known as Jordans anomaly). Affected individuals may suffer from hepatosplenomegaly, myopathy, sensorineural hearing loss, cataracts and intellectual disability.
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 275630.1.1 | Lebanon | Male | No | Yes | Ichthyosis; Sensorineural hearing impair... Ichthyosis; Sensorineural hearing impairment; Hypohidrosis; Short stature  | NM_016006.5:c.748T>G | Homozygous | Autosomal, Recessive | Al-Hage et al, 2020 |