Microcephaly

Gene: DONSON

Green List (high evidence)

MISSLA, MIM# 617604 is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly (-2.4 to -10.7 SD), variable short stature (-1.2 SD to -4 SD, although 1 individual had stature of -8.4 SD), and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development. At least 20 unrelated families reported.

Microcephaly-micromelia syndrome (MIM#251230), is a more severe disorder that usually results in intrauterine or perinatal death. Multiple affected individuals reported with homozygous c.1047-9A-G variant, from different ethnicities.

Created: 7 Mar 2021, 9:30 p.m. | Last Modified: 7 Mar 2021, 9:30 p.m.

Panel Version: 0.527

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, short stature, and limb abnormalities, MIM# 617604; Microcephaly-micromelia syndrome, MIM# 251230

Publications

• 28191891
• 28630177
• 28191891]