1p36 deletion syndrome
|
(Orphanet:1606)
|
6q25 microdeletion syndrome
|
(Orphanet:251056)
|
ACROMEGALOID CHANGES, CUTIS VERTICIS GYRATA, AND CORNEAL LEUKOMA
|
(OMIM:102100)
|
ALG3-CDG
|
(Orphanet:79321)
|
Acrorenal syndrome
|
(Orphanet:971)
|
Adult-onset foveomacular vitelliform dystrophy
|
(Orphanet:99000)
|
Agnathia - holoprosencephaly - situs inversus
|
(Orphanet:990)
|
Albinism-deafness syndrome
|
(Orphanet:998)
|
Alkaptonuria
|
(Orphanet:56)
|
Alpers syndrome
|
(Orphanet:726)
|
Alpha-N-acetylgalactosaminidase deficiency type 2
|
(Orphanet:79280)
|
Angelman syndrome
|
(Orphanet:72)
|
Antenatal multiminicore disease with arthrogryposis multiplex congenita
|
(Orphanet:178148)
|
Arachnoiditis
|
(Orphanet:137817)
|
Ascher syndrome
|
(Orphanet:1253)
|
Atypical Rett syndrome
|
(Orphanet:3095)
|
Autosomal dominant Charcot-Marie-Tooth disease type 2J
|
(Orphanet:99943)
|
Autosomal recessive infantile hypercalcemia
|
(Orphanet:300547)
|
Autosomal recessive spastic paraplegia type 48
|
(Orphanet:306511)
|
Benign familial infantile seizures
|
(Orphanet:306)
|
Blepharo-cheilo-odontic syndrome
|
(Orphanet:1997)
|
Brachyolmia type 1, Hobaek type
|
(Orphanet:93301)
|
CEDNIK syndrome
|
(Orphanet:66631)
|
CHROMOSOME 8q12.1-q21.2 DELETION SYNDROME
|
(OMIM:600257)
|
Cardiofaciocutaneous syndrome
|
(Orphanet:1340)
|
Cardiospondylocarpofacial syndrome
|
(Orphanet:3238)
|
Cerebrotendinous xanthomatosis
|
(Orphanet:909)
|
Choanal atresia - deafness - cardiac defects - dysmorphism
|
(Orphanet:1200)
|
Choreoacanthocytosis
|
(Orphanet:2388)
|
Choroideremia
|
(Orphanet:180)
|
Chronic mucocutaneous candidiasis
|
(Orphanet:1334)
|
Chylomicron retention disease
|
(Orphanet:71)
|
Congenital disorder of glycosylation
|
(Orphanet:137)
|
Congenital hypothyroidism
|
(Orphanet:442)
|
Congenital primary aphakia
|
(Orphanet:83461)
|
Cutis gyrata - acanthosis nigricans - craniosynostosis
|
(Orphanet:1555)
|
DEAFNESS, AUTOSOMAL RECESSIVE 12
|
(OMIM:601386)
|
DPM1-CDG
|
(Orphanet:79322)
|
Diabetic embryopathy
|
(Orphanet:1926)
|
Diprosopia
|
(Orphanet:1681)
|
Dysequilibrium syndrome
|
(Orphanet:1766)
|
EEM syndrome
|
(Orphanet:1897)
|
EPIBLEPHARON OF UPPER LID
|
(OMIM:131460)
|
Ectodermal dysplasia - blindness
|
(Orphanet:1806)
|
Ectodermal dysplasia syndrome
|
(Orphanet:79373)
|
Encephalocraniocutaneous lipomatosis
|
(Orphanet:2396)
|
Familial melanoma
|
(Orphanet:618)
|
Fanconi anemia
|
(Orphanet:84)
|
Farber lipogranulomatosis
|
(Orphanet:333)
|
Fetal cytomegalovirus syndrome
|
(Orphanet:294)
|
Fetal parvovirus syndrome
|
(Orphanet:295)
|
Foveal hypoplasia - presenile cataract
|
(Orphanet:2253)
|
Gaucher disease type 1
|
(Orphanet:77259)
|
Geroderma osteodysplastica
|
(Orphanet:2078)
|
Gorlin-Chaudhry-Moss syndrome
|
(Orphanet:2095)
|
Hartnup syndrome
|
(Orphanet:2116)
|
Hepatic fibrosis - renal cysts - intellectual deficit
|
(Orphanet:2031)
|
Hereditary sensory and autonomic neuropathy type 2
|
(Orphanet:970)
|
Hereditary thrombophilia due to congenital protein C deficiency
|
(Orphanet:745)
|
Hereditary vascular retinopathy
|
(Orphanet:71291)
|
Hypoplasminogenemia
|
(Orphanet:722)
|
IRIS PIGMENT EPITHELIUM ANOMALIES
|
(OMIM:601616)
|
Iminoglycinuria
|
(Orphanet:42062)
|
Infantile myofibromatosis
|
(Orphanet:2591)
|
Infantile-onset ascending hereditary spastic paralysis
|
(Orphanet:293168)
|
Isolated hereditary congenital facial paralysis
|
(Orphanet:306527)
|
LEVATOR-MEDIAL RECTUS SYNKINESIS
|
(OMIM:151610)
|
LOC syndrome
|
(Orphanet:2407)
|
Late infantile neuronal ceroid lipofuscinosis
|
(Orphanet:168491)
|
Leprechaunism
|
(Orphanet:508)
|
Linear nevus sebaceus syndrome
|
(Orphanet:2612)
|
Locked-in syndrome
|
(Orphanet:2406)
|
MPDU1-CDG
|
(Orphanet:79323)
|
MYDRIATIC RESPONSE TO PHARMACOLOGIC AGENTS
|
(OMIM:159410)
|
MYELINATED OPTIC NERVE FIBERS
|
(OMIM:159500)
|
MYH9-related thrombocytopenia
|
(Orphanet:182050)
|
Macrocephaly - spastic paraplegia - dysmorphism
|
(Orphanet:2429)
|
McCune-Albright syndrome
|
(Orphanet:562)
|
Melkersson-Rosenthal syndrome
|
(Orphanet:2483)
|
Microcephaly - lymphedema - chorioretinopathy
|
(Orphanet:2526)
|
Mosaic variegated aneuploidy syndrome
|
(Orphanet:1052)
|
Mucous membrane pemphigoid
|
(Orphanet:46486)
|
Multiple carboxylase deficiency
|
(Orphanet:148)
|
Multiple epiphyseal dysplasia
|
(Orphanet:251)
|
NEMALINE MYOPATHY 2
|
(OMIM:256030)
|
Narcolepsy-cataplexy
|
(Orphanet:2073)
|
Neurofibromatosis type 1
|
(Orphanet:636)
|
Neuronal ceroid lipofuscinosis
|
(Orphanet:216)
|
Oculocerebral hypopigmentation syndrome, Cross type
|
(Orphanet:2719)
|
Oculodentodigital dysplasia
|
(Orphanet:2710)
|
Oculoosteocutaneous syndrome
|
(Orphanet:2713)
|
Osteogenesis imperfecta - retinopathy - seizures - intellectual deficit
|
(Orphanet:2773)
|
Otospondylomegaepiphyseal dysplasia
|
(Orphanet:1427)
|
PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
|
(OMIM:614887)
|
PREPAPILLARY VASCULAR LOOPS
|
(OMIM:264060)
|
PUPIL, EGG-SHAPED
|
(OMIM:178800)
|
Peters anomaly
|
(Orphanet:708)
|
Proximal renal tubular acidosis
|
(Orphanet:47159)
|
Pterygium of the conjunctiva, familial form
|
(Orphanet:2989)
|
RECOVERIN
|
(OMIM:179618)
|
Recombinant 8 syndrome
|
(Orphanet:96167)
|
Refsum disease
|
(Orphanet:773)
|
Rett syndrome
|
(Orphanet:778)
|
Rhombencephalosynapsis
|
(Orphanet:59315)
|
SETTING-SUN PHENOMENON, FAMILIAL BENIGN
|
(OMIM:600598)
|
SJOGREN-LARSSON-LIKE ICHTHYOSIS WITHOUT CNS OR EYE INVOLVEMENT
|
(OMIM:270220)
|
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1
|
(OMIM:227220)
|
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5
|
(OMIM:227240)
|
Schöpf-Schulz-Passarge syndrome
|
(Orphanet:50944)
|
Sea-blue histiocytosis
|
(Orphanet:158029)
|
Silent sinus syndrome
|
(Orphanet:71276)
|
Spondyloepiphyseal dysplasia, Maroteaux type
|
(Orphanet:263482)
|
Sternal cleft
|
(Orphanet:2017)
|
Stickler syndrome type 3
|
(Orphanet:166100)
|
Stüve-Wiedemann syndrome
|
(Orphanet:3206)
|
Sudden infant death - dysgenesis of the testes
|
(Orphanet:168593)
|
TENTED EYEBROWS
|
(OMIM:611426)
|
Trisomy 13
|
(Orphanet:3378)
|
UNIQUE GREEN PHENOMENON
|
(OMIM:314380)
|
Waardenburg syndrome
|
(Orphanet:3440)
|
Waardenburg syndrome type 1
|
(Orphanet:894)
|
Waardenburg-Shah syndrome
|
(Orphanet:897)
|
Wolfram syndrome 1
|
(OMIM:222300)
|
X-linked corneal dermoid
|
(Orphanet:1661)
|
X-linked neurodegenerative syndrome, Bertini type
|
(Orphanet:85334)
|
X-linked retinoschisis
|
(Orphanet:792)
|