This condition is inherited in an 392x392px Most individuals with<unk>  have congenital heart defects, typically an atrial or ventricular septal defect. Those with the<unk>  typically have a characteristic facial appearance which includes a wide nasal bridge, widely-spaced eyes, upslanted eyelids, epicanthic folds, high-arched eyebrows, prominent, low-set ears, a flat nose tip and a small mouth with a small upper lip. In some of those affected, the syndrome causes curly hair. The facial appearance has been noted to resemble that of Kabuki syndrome. The syndrome typically results in intellectual disability, including motor and language delays. Some individuals have had agenesis of the corpus callosum or aplasia of the cerebellar vermis. This can sometimes manifest with symptoms of autism spectrum<unk> . Low muscle tone and strabismus are also common. A few patients have had microcephaly and seizures. Affected individuals tend to have dysautonomic symptoms of gastrointestinal dysmotility, which can include gastroesophageal reflux, constipation and trouble swallowing. A few of those affected have had ear problems such as sensorineural hearing loss or recurrent ear infections, and a few individuals have had congenital spinal abnormalities including fused vertebrae or spina bifida as well as scoliosis.
CDK13-related disorder
Chromosome 5q deletion syndrome
Lightwood–Albright syndrome
Chromosome instability syndrome
McCune–Albright syndrome
GATA2 deficiency
WNT4 deficiency
Chromosomal deletion syndrome