|
x chromosome, monosomy xq28
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C536755 |
|
|
trisomy 22 mosaicism syndrome
|
C536796 |
|
|
SBBYS variant of ohdo syndrome
|
C536717 |
|
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say-barber-biesecker-young-simpson variant of ohdo syndrome
|
C536717 |
|
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hypothyroidism, cleft palate, and hypodontia dermoid cysts
|
C536721 |
|
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cleft lip, palate, hydrocephalus, iris coloboma amelia
|
C536713 |
|
|
bustos simosa pinto cisternas syndrome
|
C536726 |
|
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sensorineural, with pituitary dwarfism deafness
|
C536710 |
|
|
combined, 3 pituitary hormone deficiency
|
C536710 |
|
|
carnitine transporter, plasma-membrane, deficiency of
|
C536778 |
|
|
winkelman bethge pfeiffer syndrome
|
C536710 |
|
|
zazam sheriff phillips syndrome
|
C536723 |
|
|
charlevoix-saguenay type spastic ataxia
|
C536787 |
|
|
asymmetric, with polysyndactyly and abnormal skin and gut development craniofacial malformations
|
C536735 |
|
