|
combined, 3 pituitary hormone deficiency
|
C536710 |
|
|
carnitine transporter, plasma-membrane, deficiency of
|
C536778 |
|
|
developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails familial short stature
|
C536728 |
|
|
hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
|
9367 |
|
|
carnitine deficiency, primary
|
C536778 |
|
|
curatolo cilio pessagno syndrome
|
C536701 |
|
|
winkelman bethge pfeiffer syndrome
|
C536710 |
|
|
zazam sheriff phillips syndrome
|
C536723 |
|
|
red cell phospholipid defect with hemolysis
|
8367 |
|
|
hypothyroidism, cleft palate, and hypodontia dermoid cysts
|
C536721 |
|
|
cleft lip, palate, hydrocephalus, iris coloboma amelia
|
C536713 |
|
|
asymmetric, with polysyndactyly and abnormal skin and gut development craniofacial malformations
|
C536735 |
|
|
progressive, with primary hypogonadism, mental retardation, and alopecia extrapyramidal disorder
|
C536742 |
|
|
deafness, autosomal recessive 116
|
33670 |
|
|
TOPORS retinitis pigmentosa
|
12367 |
|
