Split-Hand/foot Malformation with Long Bone Deficiency 1 (SHFLD1)

Alias:

Split-Hand-Foot Malformation with Long Bone Deficiency 1

Split-Hand/foot Malformation with Long Bone Deficiency

Tibial Aplasia with Split-Hand/split-Foot Deformity

Ectrodactyly with Aplasia of Long Bones

Aplasia of Tibia with Ectrodactyly

Cleft Hand and Absent Tibia

Cleft Hand Absent Tibia

Shfld1

Shfld

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Split-Hand/foot Malformation with Long Bone Deficiency 1, also known as split-hand-foot malformation with long bone deficiency 1, is related to split hand-foot malformation and chromosome 17p13.3, telomeric, duplication syndrome. An important gene associated with Split-Hand/foot Malformation with Long Bone Deficiency 1 is SHFL1 (Split-Hand/Foot Malformation With Long Bone Deficiency 1). Affiliated tissues include bone and brain, and related phenotypes are split hand and short hallux

Related ID：

MALACARDS：SPL027

OMIM：119100