Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive (SHFM1D)

Alias:

Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss

Shfm1d

Split-Hand/foot Malformation, Type 1 with Sensorineural Hearing Loss

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Split-Hand-Foot Malformation with Sensorineural Hearing Loss

Deafness, Congenital, with Split Hands and Feet

Congenital Deafness with Split Hands and Feet

Congenital Deafness and Split Hands and Feet

Split Hand-Split Foot-Hearing Loss Syndrome

Split Hand-Split Foot-Deafness Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive, also known as split hand-foot malformation 1 with sensorineural hearing loss, is related to split-hand/foot malformation 5 and split-hand/foot malformation 2. An important gene associated with Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive is DLX5 (Distal-Less Homeobox 5), and among its related pathways/superpathways are Neural crest differentiation and Validated transcriptional targets of deltaNp63 isoforms. Affiliated tissues include bone, and related phenotypes are sensorineural hearing impairment and split hand

Related ID：

MALACARDS：SPL068

OMIM：220600

MESH：D003638