Hand and foot malformations
Gene: NSDHL
Well-established gene-disease association(see OMIM entry). CHILD syndrome is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMSCreated: 7 Feb 2021, 2:29 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CHILD syndrome MIM#308050; Disorders of sterol biosynthesis
Publications
Variants in this GENE are reported as part of current diagnostic practice
>10 female patients reported with CHILD syndromeCreated: 20 Jul 2020, 6:12 a.m. | Last Modified: 20 Jul 2020, 6:12 a.m.
Panel Version: 0.3413
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
CHILD syndrome (MMIM#308050)
Publications
gene: NSDHL was added gene: NSDHL was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NSDHL were set to CK syndrome 300831; Congenital hemidysplasia, ichthyosis, limb defects (CHILD) syndrome 308050