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SBBYS variant ohdo syndrome
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C536717 |
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say-barber-biesecker variant ohdo syndrome
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C536717 |
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say-barber-biesecker-young-simpson variant ohdo syndrome
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C536717 |
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wiedemann oldigs oppermann syndrome
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C536705 |
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hypothyroidism, cleft palate, and hypodontia dermoid cysts
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C536721 |
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cleft lip, palate, hydrocephalus, iris coloboma amelia
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C536713 |
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developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails familial short stature
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C536728 |
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curatolo cilio pessagno syndrome
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C536701 |
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winkelman bethge pfeiffer syndrome
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C536710 |
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zazam sheriff phillips syndrome
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C536723 |
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bustos simosa pinto cisternas syndrome
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C536726 |
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sensorineural, with pituitary dwarfism deafness
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C536710 |
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combined, 3 pituitary hormone deficiency
|
C536710 |
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carnitine transporter, plasma-membrane, deficiency of
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C536778 |
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asymmetric, with polysyndactyly and abnormal skin and gut development craniofacial malformations
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C536735 |
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