17q11 microdeletion syndrome
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(Orphanet:97685)
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17q11.2 microduplication syndrome
|
(Orphanet:139474)
|
5p13 microduplication syndrome
|
(Orphanet:329802)
|
ASPARAGINE SYNTHETASE DEFICIENCY
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(OMIM:615574)
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Frontometaphyseal dysplasia
|
(Orphanet:1826)
|
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
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(OMIM:608594)
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LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
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(OMIM:269700)
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Leprechaunism
|
(Orphanet:508)
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MOMO syndrome
|
(Orphanet:2563)
|
SOTOS SYNDROME 1
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(OMIM:117550)
|
Wiedemann-Rautenstrauch syndrome
|
(Orphanet:3455)
|
Zunich-Kaye syndrome
|
(Orphanet:3474)
|