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GENATLAS PHENOTYPE

last update : 14-05-2024

Symbol	MRXS37
Location	Xp22.11
Name	intellectual developmental disorder, X-linked syndromic 37
Corresponding gene	ZFX
Main clinical features	intellectual disability syndrome characterized by a recurrent facial gestalt, neurocognitive and behavioral abnormalities, and an increased risk for congenital anomalies and hyperparathyroidism gross motor delay, fine motor delay, speech delay, hypotonia, abnormal brain MRI, facial dysmorphic features. also sensorineural hearing loss, ocular anomalies, feeding difficulties, and endocrine dysfunction, such as hypogonadism or hyperparathyroidism
Genetic determination	sex linked
Function/system disorder	ear
	eye
	endocrinology
	mental retardation
	sex-genitalia
Type	MCA/MR

Remark(s)