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14q22q23 microdeletion syndrome
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(Orphanet:264200)
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8p11.2 deletion syndrome
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(Orphanet:251066)
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Acromegaly
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(Orphanet:963)
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Acromelic frontonasal dysplasia
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(Orphanet:1827)
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Beta-thalassemia major
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(Orphanet:231214)
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CHARGE syndrome
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(Orphanet:138)
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CULLER-JONES SYNDROME
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(OMIM:615849)
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Central congenital hypothyroidism
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(Orphanet:226298)
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Choroideremia - hypopituitarism
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(Orphanet:1434)
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Congenital hypothyroidism
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(Orphanet:442)
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EEC syndrome
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(Orphanet:1896)
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Endomyocardial fibroelastosis
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(Orphanet:2022)
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Holoprosencephaly
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(Orphanet:2162)
|
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Hypogonadotropic hypogonadism - frontoparietal alopecia
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(Orphanet:2230)
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Hypogonadotropic hypogonadism - retinitis pigmentosa
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(Orphanet:2235)
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Hypothyroidism due to deficient transcription factors involved in pituitary development or function
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(Orphanet:226307)
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Kallmann syndrome
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(Orphanet:478)
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Kallmann syndrome - heart disease
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(Orphanet:2326)
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Microcephaly-cardiomyopathy syndrome
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(Orphanet:2515)
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Non-acquired isolated growth hormone deficiency
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(Orphanet:631)
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Nonacquired combined pituitary hormone deficiency with spine abnormalities
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(Orphanet:231720)
|
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POEMS syndrome
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(Orphanet:2905)
|
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Pallister-Hall syndrome
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(Orphanet:672)
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Peters-plus syndrome
|
(Orphanet:709)
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Pilotto syndrome
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(Orphanet:2894)
|
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Septo-optic dysplasia
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(Orphanet:3157)
|
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Short stature - wormian bones - dextrocardia
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(Orphanet:2863)
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Solitary median maxillary central incisor syndrome
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(Orphanet:2286)
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Trichomegaly - retina pigmentary degeneration - dwarfism
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(Orphanet:3363)
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Triple A syndrome
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(Orphanet:869)
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Wolfram syndrome 1
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(OMIM:222300)
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X-linked hypohidrotic ectodermal dysplasia
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(Orphanet:181)
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