3q29 microdeletion syndrome
|
(Orphanet:65286)
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6q16 deletion syndrome
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(Orphanet:171829)
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Abruzzo-Erickson syndrome
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(Orphanet:921)
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Achalasia - microcephaly
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(Orphanet:929)
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Allan-Herndon-Dudley syndrome
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(Orphanet:59)
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Alopecia - contractures - dwarfism - intellectual deficit
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(Orphanet:1005)
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Alopecia-intellectual deficit syndrome
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(Orphanet:2850)
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Alpha-mannosidosis
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(Orphanet:61)
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Aortic arch anomaly - peculiar facies - intellectual deficit
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(Orphanet:1110)
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Arachnodactyly - abnormal ossification - intellectual deficit
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(Orphanet:1129)
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Arterial tortuosity syndrome
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(Orphanet:3342)
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Arthrogryposis with oculomotor limitation and electroretinal anomalies
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(Orphanet:1154)
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Atkin-Flaitz syndrome
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(Orphanet:1193)
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Auriculoosteodysplasia
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(Orphanet:114)
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Autosomal recessive cutis laxa type 2
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(Orphanet:90350)
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Autosomal recessive polycystic kidney disease
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(Orphanet:731)
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Bannayan-Riley-Ruvalcaba syndrome
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(Orphanet:109)
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Bazex-Dupré-Christol syndrome
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(Orphanet:113)
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CEDNIK syndrome
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(Orphanet:66631)
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CHARGE syndrome
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(Orphanet:138)
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Cardiofaciocutaneous syndrome
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(Orphanet:1340)
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Cartilage-hair hypoplasia
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(Orphanet:175)
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Cerebro-oculo-nasal syndrome
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(Orphanet:66625)
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Charlie M syndrome
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(Orphanet:1406)
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Chondrodysplasia - disorder of sex development
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(Orphanet:1422)
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Christianson syndrome
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(Orphanet:85278)
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Cleft palate - large ears - small head
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(Orphanet:2013)
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Cockayne syndrome
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(Orphanet:191)
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Cornelia de Lange syndrome
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(Orphanet:199)
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Cutis gyrata - acanthosis nigricans - craniosynostosis
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(Orphanet:1555)
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Cystic fibrosis - gastritis - megaloblastic anemia
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(Orphanet:2575)
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De Barsy syndrome
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(Orphanet:2962)
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Diencephalic syndrome
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(Orphanet:1672)
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Distal monosomy 10p
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(Orphanet:1580)
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Distal monosomy 7q36
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(Orphanet:1636)
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Dysmorphism - multiple structural anomalies
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(Orphanet:1780)
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FACIAL DYSMORPHISM WITH MULTIPLE MALFORMATIONS
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(OMIM:227255)
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Fallot complex - intellectual deficit - growth delay
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(Orphanet:3304)
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Flat face - microstomia - ear anomaly
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(Orphanet:1968)
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Fuhrmann syndrome
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(Orphanet:2854)
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GM1 gangliosidosis
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(Orphanet:354)
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Galloway-Mowat syndrome
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(Orphanet:2065)
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Goldberg-Shprintzen megacolon syndrome
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(Orphanet:66629)
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Histidinuria - renal tubular defect
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(Orphanet:2158)
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Holzgreve-Wagner-Rehder syndrome
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(Orphanet:2167)
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Ichthyosis follicularis - alopecia - photophobia
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(Orphanet:2273)
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Intellectual deficit - cataracts - calcified pinnae - myopathy
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(Orphanet:3042)
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Intellectual deficit, Buenos-Aires type
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(Orphanet:3079)
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Intellectual deficit, Wolff type
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(Orphanet:3080)
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Intellectual deficit, X-linked - psychosis - macroorchidism
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(Orphanet:3077)
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Intellectual deficit, X-linked - seizures - psoriasis
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(Orphanet:3052)
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Intellectual deficit, X-linked, Abidi type
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(Orphanet:85273)
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Intellectual deficit, X-linked, Armfield type
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(Orphanet:85276)
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Intellectual deficit, X-linked, Shashi type
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(Orphanet:85286)
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Kabuki syndrome
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(Orphanet:2322)
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Lenz-Majewski hyperostotic dwarfism
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(Orphanet:2658)
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Lower limb deficiency - hypospadias
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(Orphanet:2487)
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Marfanoid habitus - intellectual deficit, autosomal recessive
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(Orphanet:2463)
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McDonough syndrome
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(Orphanet:2471)
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Micro syndrome
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(Orphanet:2510)
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Microcephaly - brachydactyly - kyphoscoliosis
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(Orphanet:3433)
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Monosomy 18p
|
(Orphanet:1598)
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Nakajo-Nishimura syndrome
|
(Orphanet:2615)
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Neu-Laxova syndrome
|
(Orphanet:2671)
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Noonan syndrome-like disorder with loose anagen hair
|
(Orphanet:2701)
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Norrie disease
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(Orphanet:649)
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Oculo-palato-cerebral syndrome
|
(Orphanet:2714)
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Oculo-reno-cerebellar syndrome
|
(Orphanet:2715)
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Odontotrichomelic syndrome
|
(Orphanet:2723)
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Oto-onycho-peroneal syndrome
|
(Orphanet:2793)
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Otofaciocervical syndrome
|
(Orphanet:2792)
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PEHO syndrome
|
(Orphanet:2836)
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Paternal 20q13.2q13.3 microdeletion syndrome
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(Orphanet:261304)
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Phocomelia, Schinzel type
|
(Orphanet:2879)
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Prominent glabella - microcephaly - hypogenitalism
|
(Orphanet:2083)
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Pseudoleprechaunism syndrome, Patterson type
|
(Orphanet:2976)
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Renpenning syndrome
|
(Orphanet:3242)
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Ring chromosome 6
|
(Orphanet:1448)
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Sakati-Nyhan syndrome
|
(Orphanet:3128)
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Sotos syndrome
|
(Orphanet:821)
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Thrombocytopenia - Robin sequence
|
(Orphanet:3323)
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Trichorhinophalangeal syndrome type 1 and 3
|
(Orphanet:77258)
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Trisomy 20p
|
(Orphanet:261318)
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Trisomy 4p
|
(Orphanet:1738)
|
Trisomy 9p
|
(Orphanet:236)
|
Van den Ende-Gupta syndrome
|
(Orphanet:2460)
|
W syndrome
|
(Orphanet:2804)
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Weaver syndrome
|
(Orphanet:3447)
|
Williams syndrome
|
(Orphanet:904)
|
X-linked distal arthrogryposis multiplex congenita
|
(Orphanet:1145)
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X-linked intellectual deficit - cerebellar hypoplasia
|
(Orphanet:137831)
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X-linked intellectual deficit, Najm type
|
(Orphanet:163937)
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Zimmermann-Laband syndrome
|
(Orphanet:3473)
|
Zlotogora-Ogur syndrome
|
(Orphanet:3253)
|