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14q11.2 microdeletion syndrome
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(Orphanet:261120)
|
|
22q11.2 deletion syndrome
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(Orphanet:567)
|
|
2p15p16.1 microdeletion syndrome
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(Orphanet:261349)
|
|
3q29 microduplication
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(Orphanet:251038)
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5p13 microduplication syndrome
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(Orphanet:329802)
|
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8q21.11 microdeletion syndrome
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(Orphanet:284160)
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8q22.1 microdeletion syndrome
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(Orphanet:178303)
|
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ADAMS-OLIVER SYNDROME 3
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(OMIM:614814)
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BRACHYMESOMELIA-RENAL SYNDROME
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(OMIM:113470)
|
|
CHROMOSOME 16q22 DELETION SYNDROME
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(OMIM:614541)
|
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Campomelic dysplasia
|
(Orphanet:140)
|
|
Camptodactyly syndrome, Guadalajara type 1
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(Orphanet:1327)
|
|
Cataract - aberrant oral frenula - growth delay
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(Orphanet:1373)
|
|
Cerebro-facio-articular syndrome
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(Orphanet:314679)
|
|
Choanal atresia - deafness - cardiac defects - dysmorphism
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(Orphanet:1200)
|
|
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
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(Orphanet:363444)
|
|
Dubowitz syndrome
|
(Orphanet:235)
|
|
ECTRODACTYLY OF LOWER LIMBS, CONGENITAL HEART DEFECT, AND MICROGNATHIA
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(OMIM:601348)
|
|
Ear-patella-short stature syndrome
|
(Orphanet:2554)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP P
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(OMIM:613951)
|
|
FRONTOOCULAR SYNDROME
|
(OMIM:605321)
|
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Feingold syndrome
|
(Orphanet:1305)
|
|
Fetal akinesia deformation sequence
|
(Orphanet:994)
|
|
Frontonasal dysplasia with alopecia and genital anomaly
|
(Orphanet:228390)
|
|
GCS1-CDG
|
(Orphanet:79330)
|
|
HUNTER-MACDONALD SYNDROME
|
(OMIM:611962)
|
|
HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVEFACIAL FEATURES
|
(OMIM:609943)
|
|
Intellectual deficit, X-linked - craniofacioskeletal syndrome
|
(Orphanet:163979)
|
|
Intellectual deficit, X-linked, Brooks type
|
(Orphanet:3056)
|
|
KAGAMI-OGATA SYNDROME
|
(OMIM:608149)
|
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Lethal restrictive dermopathy
|
(Orphanet:1662)
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
|
(OMIM:615834)
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
|
(OMIM:615866)
|
|
MMEP syndrome
|
(Orphanet:3434)
|
|
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
|
(OMIM:614114)
|
|
Microphthalmia with limb anomalies
|
(Orphanet:1106)
|
|
Monosomy 18q
|
(Orphanet:1600)
|
|
Native American myopathy
|
(Orphanet:168572)
|
|
OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
|
(OMIM:257850)
|
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
|
Pelviscapular dysplasia
|
(Orphanet:93333)
|
|
Stüve-Wiedemann syndrome
|
(Orphanet:3206)
|
|
TARP syndrome
|
(Orphanet:2886)
|
|
Toriello-Carey syndrome
|
(Orphanet:3338)
|
|
VAN MALDERGEM SYNDROME 2
|
(OMIM:615546)
|
|
WHISTLING FACE SYNDROME, RECESSIVE FORM
|
(OMIM:277720)
|
|
Zechi-Ceide syndrome
|
(Orphanet:217017)
|