|
14q22q23 microdeletion syndrome
|
(Orphanet:264200)
|
|
16q24.3 microdeletion syndrome
|
(Orphanet:261250)
|
|
1p36 deletion syndrome
|
(Orphanet:1606)
|
|
1q44 microdeletion syndrome
|
(Orphanet:238769)
|
|
22q11.2 deletion syndrome
|
(Orphanet:567)
|
|
2p15p16.1 microdeletion syndrome
|
(Orphanet:261349)
|
|
3C syndrome
|
(Orphanet:7)
|
|
5q14.3 microdeletion syndrome
|
(Orphanet:228384)
|
|
Acro-oto-ocular syndrome
|
(Orphanet:2980)
|
|
Acro-renal-ocular syndrome
|
(Orphanet:959)
|
|
Aicardi syndrome
|
(Orphanet:50)
|
|
Albers-Schönberg osteopetrosis
|
(Orphanet:53)
|
|
Alpha-N-acetylgalactosaminidase deficiency type 1
|
(Orphanet:79279)
|
|
Alpha-thalassemia - X-linked intellectual deficit syndrome
|
(Orphanet:847)
|
|
Alström syndrome
|
(Orphanet:64)
|
|
Amaurosis - hypertrichosis
|
(Orphanet:1021)
|
|
Amish lethal microcephaly
|
(Orphanet:99742)
|
|
Aniridia
|
(Orphanet:77)
|
|
Aniridia-intellectual deficit syndrome
|
(Orphanet:1068)
|
|
Anophthalmia - megalocornea - cardiopathy - skeletal anomalies
|
(Orphanet:1101)
|
|
Apert syndrome
|
(Orphanet:87)
|
|
Arthrogryposis with oculomotor limitation and electroretinal anomalies
|
(Orphanet:1154)
|
|
Auriculoocular anomalies - cleft lip
|
(Orphanet:71270)
|
|
Autosomal dominant cerebellar ataxia
|
(Orphanet:99)
|
|
Autosomal dominant hypocalcemia
|
(Orphanet:428)
|
|
Autosomal dominant optic atrophy plus syndrome
|
(Orphanet:1215)
|
|
Autosomal dominant vitreoretinochoroidopathy
|
(Orphanet:3086)
|
|
Autosomal recessive chorioretinopathy-microcephaly
|
(Orphanet:2518)
|
|
Autosomal recessive malignant osteopetrosis
|
(Orphanet:667)
|
|
Axial spondylometaphyseal dysplasia
|
(Orphanet:168549)
|
|
BRESEK syndrome
|
(Orphanet:85284)
|
|
Bannayan-Riley-Ruvalcaba syndrome
|
(Orphanet:109)
|
|
Behr syndrome
|
(Orphanet:1239)
|
|
Biotinidase deficiency
|
(Orphanet:79241)
|
|
Blau syndrome
|
(Orphanet:90340)
|
|
Blepharonasofacial malformation syndrome
|
(Orphanet:1252)
|
|
CEDNIK syndrome
|
(Orphanet:66631)
|
|
CHARGE syndrome
|
(Orphanet:138)
|
|
CINCA syndrome
|
(Orphanet:1451)
|
|
COFS syndrome
|
(Orphanet:1466)
|
|
Camurati-Engelmann disease
|
(Orphanet:1328)
|
|
Canavan disease
|
(Orphanet:141)
|
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
|
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
|
(Orphanet:1171)
|
|
Cerebellar ataxia - hypogonadism
|
(Orphanet:1173)
|
|
Cerebellar hypoplasia - tapetoretinal degeneration
|
(Orphanet:2246)
|
|
Cherubism
|
(Orphanet:184)
|
|
Classical homocystinuria
|
(Orphanet:394)
|
|
Cockayne syndrome
|
(Orphanet:191)
|
|
Coffin-Lowry syndrome
|
(Orphanet:192)
|
|
Cohen syndrome
|
(Orphanet:193)
|
|
Congenital hypothyroidism
|
(Orphanet:442)
|
|
Craniodiaphyseal dysplasia
|
(Orphanet:1513)
|
|
Craniosynostosis - Dandy-Walker malformation - hydrocephalus
|
(Orphanet:1538)
|
|
Craniotelencephalic dysplasia
|
(Orphanet:1528)
|
|
Crouzon disease
|
(Orphanet:207)
|
|
Crouzon syndrome - acanthosis nigricans
|
(Orphanet:93262)
|
|
Cutis gyrata - acanthosis nigricans - craniosynostosis
|
(Orphanet:1555)
|
|
Deafness - lymphedema - leukemia
|
(Orphanet:3226)
|
|
Deafness - onychodystrophy
|
(Orphanet:3231)
|
|
Diencephalic syndrome
|
(Orphanet:1672)
|
|
Distal monosomy 13q
|
(Orphanet:1590)
|
|
Distal monosomy 17q
|
(Orphanet:1597)
|
|
Distal monosomy 7q36
|
(Orphanet:1636)
|
|
Duane retraction syndrome
|
(Orphanet:233)
|
|
Dysosteosclerosis
|
(Orphanet:1782)
|
|
Embryofetopathy due to oral anticoagulant therapy
|
(Orphanet:1914)
|
|
Fabry disease
|
(Orphanet:324)
|
|
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation
|
(Orphanet:1970)
|
|
Familial dysautonomia
|
(Orphanet:1764)
|
|
Foveal hypoplasia - presenile cataract
|
(Orphanet:2253)
|
|
Fried syndrome
|
(Orphanet:85335)
|
|
GAPO syndrome
|
(Orphanet:2067)
|
|
GM1 gangliosidosis
|
(Orphanet:354)
|
|
Giant cell arteritis
|
(Orphanet:397)
|
|
Hennekam-Beemer syndrome
|
(Orphanet:2135)
|
|
Hermansky-Pudlak syndrome
|
(Orphanet:79430)
|
|
Holoprosencephaly
|
(Orphanet:2162)
|
|
Hurler-Scheie syndrome
|
(Orphanet:93476)
|
|
Immunoglobulin A vasculitis
|
(Orphanet:761)
|
|
Infantile Refsum disease
|
(Orphanet:772)
|
|
Infantile axonal neuropathy
|
(Orphanet:2679)
|
|
Infantile neuroaxonal dystrophy
|
(Orphanet:35069)
|
|
Infantile neuronal ceroid lipofuscinosis
|
(Orphanet:79263)
|
|
Intellectual deficit - hypoplastic corpus callosum - preauricular tag
|
(Orphanet:1495)
|
|
Intellectual deficit - microcephaly - phalangeal - facial abnormalities
|
(Orphanet:3067)
|
|
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy
|
(Orphanet:2958)
|
|
Intellectual deficit, X-linked, Wittwer type
|
(Orphanet:85291)
|
|
Isolated optic nerve hypoplasia
|
(Orphanet:137902)
|
|
Isolated oxycephaly
|
(Orphanet:63440)
|
|
Jalili syndrome
|
(Orphanet:1873)
|
|
Juvenile Paget disease
|
(Orphanet:2801)
|
|
Keutel syndrome
|
(Orphanet:85202)
|
|
Laryngeal abductor paralysis - intellectual deficit
|
(Orphanet:2375)
|
|
Leber congenital amaurosis
|
(Orphanet:65)
|
|
Leber hereditary optic neuropathy
|
(Orphanet:104)
|
|
Lethal ataxia with deafness and optic atrophy
|
(Orphanet:1187)
|
|
Malignant atrophic papulosis
|
(Orphanet:679)
|
|
Marinesco-Sjögren syndrome
|
(Orphanet:559)
|
|
Marshall-Smith syndrome
|
(Orphanet:561)
|
|
McCune-Albright syndrome
|
(Orphanet:562)
|
|
Meckel syndrome
|
(Orphanet:564)
|
|
Megalencephaly-capillary malformation-polymicrogyria syndrome
|
(Orphanet:60040)
|
|
Metachromatic leukodystrophy
|
(Orphanet:512)
|
|
Micro syndrome
|
(Orphanet:2510)
|
|
Microcephaly - intellectual deficit - phalangeal and neurological anomalies
|
(Orphanet:137658)
|
|
Microcephaly - lymphedema - chorioretinopathy
|
(Orphanet:2526)
|
|
Microphthalmia with limb anomalies
|
(Orphanet:1106)
|
|
Morning glory syndrome
|
(Orphanet:35737)
|
|
Muckle-Wells syndrome
|
(Orphanet:575)
|
|
Mucopolysaccharidosis type 1
|
(Orphanet:579)
|
|
Mucopolysaccharidosis type 2
|
(Orphanet:580)
|
|
Mucopolysaccharidosis type 2, severe form
|
(Orphanet:217085)
|
|
Multiple sclerosis - ichthyosis - factor VIII deficiency
|
(Orphanet:3151)
|
|
Multiple sulfatase deficiency
|
(Orphanet:585)
|
|
Muscle-eye-brain disease
|
(Orphanet:588)
|
|
Neonatal adrenoleukodystrophy
|
(Orphanet:44)
|
|
Neurodegeneration with brain iron accumulation
|
(Orphanet:385)
|
|
Neuroectodermal melanolysosomal disease
|
(Orphanet:33445)
|
|
Neuronal ceroid lipofuscinosis
|
(Orphanet:216)
|
|
Neuronal intranuclear inclusion disease
|
(Orphanet:2289)
|
|
Non-rhizomelic chondrodysplasia punctata
|
(Orphanet:176)
|
|
Norrie disease
|
(Orphanet:649)
|
|
Oculo-palato-cerebral syndrome
|
(Orphanet:2714)
|
|
Oculo-reno-cerebellar syndrome
|
(Orphanet:2715)
|
|
Oculocerebral dysplasia
|
(Orphanet:2705)
|
|
Oculocerebrofacial syndrome, Kaufman type
|
(Orphanet:2707)
|
|
Oculocutaneous albinism type 1A
|
(Orphanet:79431)
|
|
Oculocutaneous albinism type 1B
|
(Orphanet:79434)
|
|
Oculocutaneous albinism type 2
|
(Orphanet:79432)
|
|
Oculocutaneous albinism type 4
|
(Orphanet:79435)
|
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
|
Olivopontocerebellar atrophy - deafness
|
(Orphanet:2732)
|
|
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit
|
(Orphanet:2773)
|
|
Osteopetrosis with renal tubular acidosis
|
(Orphanet:2785)
|
|
Osteoporosis - macrocephaly - blindness - joint hyperlaxity
|
(Orphanet:2787)
|
|
Osteoporosis - pseudoglioma
|
(Orphanet:2788)
|
|
Osteosclerosis - developmental delay - craniosynostosis
|
(Orphanet:178377)
|
|
PAGOD syndrome
|
(Orphanet:991)
|
|
PEHO syndrome
|
(Orphanet:2836)
|
|
PHACE syndrome
|
(Orphanet:42775)
|
|
PTEN hamartoma tumor syndrome
|
(Orphanet:306498)
|
|
Pelizaeus-Merzbacher disease
|
(Orphanet:702)
|
|
Peroxisomal acyl-CoA oxidase deficiency
|
(Orphanet:2971)
|
|
Peters-plus syndrome
|
(Orphanet:709)
|
|
Preaxial polydactyly - colobomata - intellectual deficit
|
(Orphanet:2921)
|
|
Pseudoprogeria syndrome
|
(Orphanet:2985)
|
|
Renal coloboma syndrome
|
(Orphanet:1475)
|
|
Retinal degeneration - nanophthalmos - glaucoma
|
(Orphanet:1574)
|
|
Retinitis pigmentosa
|
(Orphanet:791)
|
|
Retinohepatoendocrinologic syndrome
|
(Orphanet:3087)
|
|
Riboflavin transporter deficiency
|
(Orphanet:97229)
|
|
Saethre-Chotzen syndrome
|
(Orphanet:794)
|
|
Schinzel-Giedion syndrome
|
(Orphanet:798)
|
|
Sclerosteosis
|
(Orphanet:3152)
|
|
Septo-optic dysplasia
|
(Orphanet:3157)
|
|
Severe Canavan disease
|
(Orphanet:314911)
|
|
Severe X-linked intellectual deficit, Gustavson type
|
(Orphanet:3078)
|
|
Smith-Lemli-Opitz syndrome
|
(Orphanet:818)
|
|
Spastic ataxia - corneal dystrophy
|
(Orphanet:2572)
|
|
Spastic paraplegia type 2
|
(Orphanet:99015)
|
|
Spinocerebellar ataxia - dysmorphism
|
(Orphanet:1185)
|
|
Sturge-Weber syndrome
|
(Orphanet:3205)
|
|
Tay-Sachs disease
|
(Orphanet:845)
|
|
Tel Hashomer camptodactyly syndrome
|
(Orphanet:3292)
|
|
Tetraamelia - multiple malformations
|
(Orphanet:3301)
|
|
Triple A syndrome
|
(Orphanet:869)
|
|
Trisomy 13
|
(Orphanet:3378)
|
|
Tuberous sclerosis
|
(Orphanet:805)
|
|
Uveal coloboma - cleft lip and palate - intellectual deficit
|
(Orphanet:1473)
|
|
VACTERL with hydrocephalus
|
(Orphanet:3412)
|
|
Van Regemorter-Pierquin-Vamos syndrome
|
(Orphanet:3419)
|
|
Vici syndrome
|
(Orphanet:1493)
|
|
Vitamin B12-unresponsive methylmalonic acidemia
|
(Orphanet:27)
|
|
Vitamin B12-unresponsive methylmalonic acidemia type mut-
|
(Orphanet:79312)
|
|
Vitamin B12-unresponsive methylmalonic acidemia type mut0
|
(Orphanet:289916)
|
|
Walker-Warburg syndrome
|
(Orphanet:899)
|
|
Wildervanck syndrome
|
(Orphanet:3456)
|
|
Wolf-Hirschhorn syndrome
|
(Orphanet:280)
|
|
Wrinkly skin syndrome
|
(Orphanet:2834)
|
|
X-linked Charcot-Marie-Tooth disease type 5
|
(Orphanet:99014)
|
|
X-linked dominant chondrodysplasia punctata
|
(Orphanet:35173)
|
|
X-linked intellectual deficit, Najm type
|
(Orphanet:163937)
|
|
X-linked spinocerebellar ataxia type 3
|
(Orphanet:85297)
|
|
Xeroderma pigmentosum
|
(Orphanet:910)
|
|
Xeroderma pigmentosum/Cockayne syndrome complex
|
(Orphanet:220295)
|
|
Zellweger syndrome
|
(Orphanet:912)
|