12q14 microdeletion syndrome
|
(Orphanet:94063)
|
15q13.3 microdeletion syndrome
|
(Orphanet:199318)
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17q12 microduplication syndrome
|
(Orphanet:261272)
|
17q21.31 microduplication syndrome
|
(Orphanet:217340)
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19p13.12 microdeletion syndrome
|
(Orphanet:254346)
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1p36 deletion syndrome
|
(Orphanet:1606)
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1q44 microdeletion syndrome
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(Orphanet:238769)
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2q23.1 microdeletion syndrome
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(Orphanet:228402)
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2q31.1 microdeletion syndrome
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(Orphanet:251014)
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4q21 microdeletion syndrome
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(Orphanet:238750)
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Acro-oto-ocular syndrome
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(Orphanet:2980)
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Acromegaloid facial appearance syndrome
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(Orphanet:965)
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Acromegaly
|
(Orphanet:963)
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Acroosteolysis, dominant type
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(Orphanet:955)
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Amaurosis - hypertrichosis
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(Orphanet:1021)
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BARATELA-SCOTT SYNDROME
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(OMIM:300881)
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Beckwith-Wiedemann syndrome due to 11p15 microdeletion
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(Orphanet:231127)
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Blepharophimosis - epicanthus inversus - ptosis
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(Orphanet:126)
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Blepharophimosis - ptosis - esotropia - syndactyly - short stature
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(Orphanet:2057)
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Bohring-Opitz syndrome
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(Orphanet:97297)
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Brachydactyly - preaxial hallux varus
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(Orphanet:1278)
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Brachytelephalangy - dysmorphism - Kallmann syndrome
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(Orphanet:1295)
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CORNELIA DE LANGE SYNDROME 1
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(OMIM:122470)
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CORNELIA DE LANGE SYNDROME 2
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(OMIM:300590)
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CORNELIA DE LANGE SYNDROME 3
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(OMIM:610759)
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CORNELIA DE LANGE SYNDROME 4
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(OMIM:614701)
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CORNELIA DE LANGE SYNDROME 5
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(OMIM:300882)
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Camptodactyly syndrome, Guadalajara type 1
|
(Orphanet:1327)
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Cerebro-facio-thoracic dysplasia
|
(Orphanet:1394)
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Congenital lactic acidosis, Saguenay-Lac-St. Jean type
|
(Orphanet:70472)
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Cornelia de Lange syndrome
|
(Orphanet:199)
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Deafness with labyrinthine aplasia, microtia, and microdontia
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(Orphanet:90024)
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Disorder of sex development - intellectual deficit
|
(Orphanet:2983)
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Distal monosomy 3p
|
(Orphanet:1620)
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EPILEPSY-TELANGIECTASIA
|
(OMIM:226850)
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Edinburgh malformation syndrome
|
(Orphanet:1895)
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Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
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(Orphanet:1970)
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Fetal trimethadione syndrome
|
(Orphanet:1913)
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Gastrocutaneous syndrome
|
(Orphanet:2069)
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German syndrome
|
(Orphanet:2077)
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Gingival fibromatosis - facial dysmorphism
|
(Orphanet:2025)
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Gingival fibromatosis-hypertrichosis syndrome
|
(Orphanet:2026)
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Goldberg-Shprintzen megacolon syndrome
|
(Orphanet:66629)
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Gorlin-Chaudhry-Moss syndrome
|
(Orphanet:2095)
|
HAJDU-CHENEY SYNDROME
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(OMIM:102500)
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HOLOPROSENCEPHALY 11
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(OMIM:614226)
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HOLOPROSENCEPHALY 5
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(OMIM:609637)
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Holoprosencephaly
|
(Orphanet:2162)
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Hurler syndrome
|
(Orphanet:93473)
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Hurler-Scheie syndrome
|
(Orphanet:93476)
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Hypospadias - intellectual deficit, Goldblatt type
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(Orphanet:2261)
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Hypotonia with lactic acidemia and hyperammonemia
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(Orphanet:137908)
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Intellectual deficit - cataracts - calcified pinnae - myopathy
|
(Orphanet:3042)
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Intellectual deficit, X-linked - hypogammaglobulinemia - progressive neurological deterioration
|
(Orphanet:85317)
|
Intellectual deficit, X-linked, Nascimento type
|
(Orphanet:163956)
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Intellectual deficit, X-linked, Siderius type
|
(Orphanet:85287)
|
Intellectual deficit, X-linked, Vitale type
|
(Orphanet:85289)
|
Isolated trigonocephaly
|
(Orphanet:3366)
|
Kleefstra syndrome
|
(Orphanet:261494)
|
Kleefstra syndrome due to 9q34 microdeletion
|
(Orphanet:96147)
|
Lichstenstein syndrome
|
(Orphanet:2390)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 17
|
(OMIM:615009)
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 23
|
(OMIM:615761)
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
|
(OMIM:616078)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13
|
(OMIM:613192)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 35
|
(OMIM:615162)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39
|
(OMIM:615541)
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
|
(OMIM:611091)
|
MENTAL RETARDATION, X-LINKED 21
|
(OMIM:300143)
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHUDLEY-SCHWARTZ TYPE
|
(OMIM:300861)
|
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
|
(OMIM:615824)
|
Macrocephaly - spastic paraplegia - dysmorphism
|
(Orphanet:2429)
|
Mandibulofacial dysostosis - macroblepharon - macrostomia
|
(Orphanet:357158)
|
Marfanoid habitus - intellectual deficit, autosomal recessive
|
(Orphanet:2463)
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
McDonough syndrome
|
(Orphanet:2471)
|
Micrencephaly - corpus callosum agenesis - abnormal genitalia
|
(Orphanet:2508)
|
Mikati-Najjar-Sahli syndrome
|
(Orphanet:2558)
|
Monosomy 9p
|
(Orphanet:261112)
|
Mucopolysaccharidosis type 3
|
(Orphanet:581)
|
Night blindness - skeletal anomalies - dysmorphism
|
(Orphanet:1390)
|
Non-distal monosomy 10q
|
(Orphanet:1581)
|
Non-distal trisomy 13q
|
(Orphanet:1702)
|
Non-rhizomelic chondrodysplasia punctata
|
(Orphanet:176)
|
Okamoto syndrome
|
(Orphanet:2729)
|
Orofaciodigital syndrome type 8
|
(Orphanet:2755)
|
Piebaldism
|
(Orphanet:2884)
|
Sakati-Nyhan syndrome
|
(Orphanet:3128)
|
Sanfilippo syndrome type A
|
(Orphanet:79269)
|
Sanfilippo syndrome type B
|
(Orphanet:79270)
|
Sanfilippo syndrome type C
|
(Orphanet:79271)
|
Sanfilippo syndrome type D
|
(Orphanet:79272)
|
Shoulder and girdle defects - familial intellectual deficit
|
(Orphanet:2580)
|
Sialuria
|
(Orphanet:3166)
|
Smith-Magenis syndrome
|
(Orphanet:819)
|
Spondyloepimetaphyseal dysplasia, Geneviève type
|
(Orphanet:168454)
|
Synostosis - microcephaly - scoliosis
|
(Orphanet:3268)
|
TMCO1 defect syndrome
|
(Orphanet:228407)
|
Temtamy preaxial brachydactyly syndrome
|
(Orphanet:363417)
|
Trichomegaly - retina pigmentary degeneration - dwarfism
|
(Orphanet:3363)
|
URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
|
(OMIM:300280)
|
WAARDENBURG SYNDROME, TYPE 2A
|
(OMIM:193510)
|
Waardenburg syndrome
|
(Orphanet:3440)
|
Waardenburg syndrome type 1
|
(Orphanet:894)
|
Waardenburg syndrome type 2
|
(Orphanet:895)
|
Waardenburg syndrome type 3
|
(Orphanet:896)
|
Waardenburg-Shah syndrome
|
(Orphanet:897)
|
White matter hypoplasia - corpus callosum agenesis - intellectual deficit
|
(Orphanet:3207)
|
Wiedemann-Steiner syndrome
|
(Orphanet:319182)
|
Wilson-Turner syndrome
|
(Orphanet:3459)
|
Zimmermann-Laband syndrome
|
(Orphanet:3473)
|
Zlotogora-Ogur syndrome
|
(Orphanet:3253)
|