14q12 microdeletion syndrome
|
(Orphanet:261144)
|
1q44 microdeletion syndrome
|
(Orphanet:238769)
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2p15p16.1 microdeletion syndrome
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(Orphanet:261349)
|
2q31.1 microdeletion syndrome
|
(Orphanet:251014)
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AICA-ribosiduria
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(Orphanet:250977)
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Adenylosuccinate lyase deficiency
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(Orphanet:46)
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Arachnodactyly - abnormal ossification - intellectual deficit
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(Orphanet:1129)
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Baraitser-Winter syndrome
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(Orphanet:2995)
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Bohring-Opitz syndrome
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(Orphanet:97297)
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COFS syndrome
|
(Orphanet:1466)
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DEND syndrome
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(Orphanet:79134)
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Distal monosomy 17q
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(Orphanet:1597)
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Distal monosomy 3p
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(Orphanet:1620)
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Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration
|
(Orphanet:85317)
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Koolen-De Vries syndrome
|
(Orphanet:96169)
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Lateral meningocele syndrome
|
(Orphanet:2789)
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Lathosterolosis
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(Orphanet:46059)
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MEIER-GORLIN SYNDROME 5
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(OMIM:613805)
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Malignant hyperthermia - arthrogryposis - torticollis
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(Orphanet:2215)
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Mullerian derivatives - lymphangiectasia - polydactyly
|
(Orphanet:1655)
|
Opitz G/BBB syndrome
|
(Orphanet:2745)
|
Permanent neonatal diabetes mellitus
|
(Orphanet:99885)
|
Pyruvate dehydrogenase E3-binding protein deficiency
|
(Orphanet:255182)
|
Skeletal dysplasia - intellectual deficit
|
(Orphanet:1436)
|
Summitt syndrome
|
(Orphanet:3210)
|
Trigonocephaly - bifid nose - acral anomalies
|
(Orphanet:3368)
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Trigonocephaly - short stature - developmental delay
|
(Orphanet:3369)
|
Trisomy 17p
|
(Orphanet:261290)
|