|
zazam sheriff phillips syndrome
|
C536723 |
|
|
red cell phospholipid defect with hemolysis
|
8367 |
|
|
wiedemann oldigs oppermann syndrome
|
C536705 |
|
|
cleft lip, palate, hydrocephalus, iris coloboma amelia
|
C536713 |
|
|
carnitine deficiency, primary
|
C536778 |
|
|
bustos simosa pinto cisternas syndrome
|
C536726 |
|
|
sensorineural, with pituitary dwarfism deafness
|
C536710 |
|
|
combined, 3 pituitary hormone deficiency
|
C536710 |
|
|
carnitine transporter, plasma-membrane, deficiency of
|
C536778 |
|
|
TOPORS retinitis pigmentosa
|
12367 |
|
|
mitochondrial membrane protein-associated neurodegeneration
|
13674 |
|
|
developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails familial short stature
|
C536728 |
|
|
progressive, with primary hypogonadism, mental retardation, and alopecia extrapyramidal disorder
|
C536742 |
|
|
hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation
|
13673 |
|
|
deafness, autosomal recessive 116
|
33670 |
|
