17q12 microdeletion syndrome
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(Orphanet:261265)
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17q23.1q23.2 microdeletion syndrome
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(Orphanet:261279)
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3q13 microdeletion syndrome
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(Orphanet:1621)
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AARSKOG SYNDROME, AUTOSOMAL DOMINANT
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(OMIM:100050)
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AARSKOG-SCOTT SYNDROME
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(OMIM:305400)
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Aarskog-Scott syndrome
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(Orphanet:915)
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Acro-cardio-facial syndrome
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(Orphanet:2008)
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Alpha-thalassemia - X-linked intellectual deficit syndrome
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(Orphanet:847)
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Autosomal recessive facio-digito-genital syndrome
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(Orphanet:1974)
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Barber-Say syndrome
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(Orphanet:1231)
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Blepharophimosis-intellectual deficit syndrome, Verloes type
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(Orphanet:293725)
|
CARPENTER SYNDROME 2
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(OMIM:614976)
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Cerebro-facio-thoracic dysplasia
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(Orphanet:1394)
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Craniofrontonasal dysplasia
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(Orphanet:1520)
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Cystic fibrosis - gastritis - megaloblastic anemia
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(Orphanet:2575)
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Dysmorphism - short stature - deafness - disorder of sex development
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(Orphanet:2282)
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Ear-patella-short stature syndrome
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(Orphanet:2554)
|
FACIOTHORACOGENITAL SYNDROME
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(OMIM:227320)
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Facial dysmorphism - shawl scrotum - joint laxity
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(Orphanet:1778)
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Fibulo-ulnar hypoplasia - renal anomalies
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(Orphanet:2256)
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Fine-Lubinsky syndrome
|
(Orphanet:1272)
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Fryns syndrome
|
(Orphanet:2059)
|
Hypertelorism - hypospadias - polysyndactyly syndrome
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(Orphanet:2211)
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Hypertelorism, Teebi type
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(Orphanet:1519)
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Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
|
(Orphanet:293958)
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Intellectual deficit, X-linked, Cantagrel type
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(Orphanet:85277)
|
MEIER-GORLIN SYNDROME 1
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(OMIM:224690)
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NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
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(OMIM:616263)
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Rubinstein-Taybi syndrome due to CREBBP mutations
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(Orphanet:353277)
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Ulnar-mammary syndrome
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(Orphanet:3138)
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WIDOW'S PEAK SYNDROME
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(OMIM:314570)
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