| SOTOS SYNDROME 2; SOTOS2 | |
| MALAN SYNDROME | |
|
614753
OMIM = Online Mendelian Inheritance of Men | |
|
420179 | |
| Nuclear factor 1 X-type | |
| rare autosomal dominant mutation in the NFIX gene | |
| Laboratory findings | no specific laboratory findings (P, S, U ,CSF) () |
| Symptoms | ataxia behavior, autism or autistic-like cardiac involvement, cardiac defects cardiomegaly headache (severe, recurrent or occipital, migraine) high birthweight (large for gestational age) hypotonia macrocephaly (large calvaria, >2 SD for age) mental retardation motor retardation nystagmus onset, infancy prominent forehead skeletal changes, skeletal abnormalities skoliosis, kyphoskoliosis speech development, delayed, abnormal strabismus Teeth: premature eruption vomiting |