Angelman syndrome
|
(Orphanet:72)
|
Apert syndrome
|
(Orphanet:87)
|
Autosomal dominant Larsen syndrome
|
(Orphanet:503)
|
Autosomal recessive distal osteolysis syndrome
|
(Orphanet:2776)
|
Cartilage-hair hypoplasia
|
(Orphanet:175)
|
Char syndrome
|
(Orphanet:46627)
|
Cooper-Jabs syndrome
|
(Orphanet:1488)
|
Craniofacial-deafness-hand syndrome
|
(Orphanet:1529)
|
Craniosynostosis - dysmorphism - brachydactyly
|
(Orphanet:1535)
|
Craniosynostosis, Herrmann-Opitz type
|
(Orphanet:2145)
|
Cutis gyrata - acanthosis nigricans - craniosynostosis
|
(Orphanet:1555)
|
Diastrophic dwarfism
|
(Orphanet:628)
|
Familial osteodysplasia, Anderson type
|
(Orphanet:2769)
|
HOLOPROSENCEPHALY 7
|
(OMIM:610828)
|
HOLOPROSENCEPHALY 9
|
(OMIM:610829)
|
Holoprosencephaly - postaxial polydactyly
|
(Orphanet:2166)
|
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism
|
(Orphanet:2250)
|
Isolated cloverleaf skull syndrome
|
(Orphanet:2343)
|
Kaler-Garrity-Stern syndrome
|
(Orphanet:2324)
|
Kozlowski-Brown-Hardwick syndrome
|
(Orphanet:2352)
|
Lethal Kniest-like dysplasia
|
(Orphanet:2347)
|
Marshall syndrome
|
(Orphanet:560)
|
Mesomelic dwarfism - cleft palate - camptodactyly
|
(Orphanet:2631)
|
Microphthalmia with limb anomalies
|
(Orphanet:1106)
|
Neurofaciodigitorenal syndrome
|
(Orphanet:2673)
|
Non-eruption of teeth - maxillary hypoplasia - genu valgum
|
(Orphanet:2972)
|
Non-rhizomelic chondrodysplasia punctata
|
(Orphanet:176)
|
Oro-mandibular-limb hypogenesis syndrome
|
(Orphanet:2749)
|
PEHO syndrome
|
(Orphanet:2836)
|
Prolidase deficiency
|
(Orphanet:742)
|
Schneckenbecken dysplasia
|
(Orphanet:3144)
|
Short stature - craniofacial anomalies - genital hypoplasia
|
(Orphanet:2994)
|
Short stature - intellectual deficit - eye anomalies - cleft lip/palate
|
(Orphanet:2649)
|
Shoulder and girdle defects - familial intellectual deficit
|
(Orphanet:2580)
|
Stickler syndrome
|
(Orphanet:828)
|
Trisomy 12p
|
(Orphanet:1699)
|
Trisomy 13
|
(Orphanet:3378)
|
Weaver-Williams syndrome
|
(Orphanet:3448)
|
Wrinkly skin syndrome
|
(Orphanet:2834)
|