|
developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails familial short stature
|
C536728 |
|
|
curatolo cilio pessagno syndrome
|
C536701 |
|
|
winkelman bethge pfeiffer syndrome
|
C536710 |
|
|
zazam sheriff phillips syndrome
|
C536723 |
|
|
red cell phospholipid defect with hemolysis
|
8367 |
|
|
TOPORS retinitis pigmentosa
|
12367 |
|
|
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 |
|
|
hydrometrocolpos, postaxial polydactyly, and congenital heart malformation
|
9367 |
|
|
asymmetric, with polysyndactyly and abnormal skin and gut development craniofacial malformations
|
C536735 |
|
|
carnitine deficiency, primary
|
C536778 |
|
|
progressive, with primary hypogonadism, mental retardation, and alopecia extrapyramidal disorder
|
C536742 |
|
|
hearing loss, progressive, with optic atrophy and/or impaired glucose Regulation
|
13673 |
|
