A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Smith-Magenis syndrome
MONDO:0008434
intellectual disability, Buenos-Aires type
MONDO:0009584
intellectual disability, Wolff type
MONDO:0010203
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
MONDO:0010334
CK syndrome
MONDO:0010441
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
MONDO:0014358