The Xia-Gibbs syndrome is a rare disorder associated with mutations at AHDC1.
Gene: AHDC1 (AT-hook DNA binding motif containing 1
Location: 1p36.11-p35.3
Clinical features:
(1) language delay
(2) sleep apnea
(3) hypotonia
(4) scoliosis
(5) seizures
(6) autism spectrum
(7) thinning of the corpus callosum
(8) posterior fossa cysts
Facial dysmorphism may include:
(1) broad forehead
(2) hypertelorism
(3) flat nasal bridge
(4) thin upper lip
(5) small ear lobes
(6) upturned earlobes
(7) low-set ears
(8) protuberant ears
(9) deep-set eyes
(10) slanting (up or down) palpebral fissures
(11) mild ptosis
(12) esotropia/strabismus
(13) micrognathia
