|
carnitine deficiency, primary
|
C536778 |
|
|
progressive, with primary hypogonadism, mental retardation, and alopecia extrapyramidal disorder
|
C536742 |
|
|
monosomy xp22 pter x chromosome
|
C536754 |
|
|
microdeletion 22 q11 chromosome 22
|
C536797 |
|
|
X-linked mental retardation gustavson type
|
C536759 |
|
|
X-linked mental retardation syndrome, wittwer tpe
|
C536760 |
|
|
X-linked mental retardation type wittwer
|
C536760 |
|
|
combined, with rigid cervical spine pituitary hormone deficiency
|
C536710 |
|
|
woods leversha rogers syndrome
|
C536744 |
|
|
ohdo syndrome, say-barber-biesecker variant
|
C536717 |
|
|
ohdo syndrome, say-barber-biesecker-young-simpson variant
|
C536717 |
|
|
deafness, and seizures mental retardation with optic atrophy
|
C536759 |
|
