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Metadata
ID DOID:0112242
Name congenital symmetric circumferential skin creases 1
Definition A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33.
https://pubmed.ncbi.nlm.nih.gov/26637975/
Xrefs

MIM:156610

Synonyms

CSCSC1 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a multiple benign circumferential skin creases on limbs

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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