|
Amelo-cerebro-hypohidrotic syndrome
|
(Orphanet:1946)
|
|
Apparent mineralocorticoid excess
|
(Orphanet:320)
|
|
Attenuated familial adenomatous polyposis
|
(Orphanet:220460)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
|
(Orphanet:99947)
|
|
Autosomal dominant Charcot-Marie-Tooth disease type 2N
|
(Orphanet:228174)
|
|
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
|
(Orphanet:363454)
|
|
Autosomal dominant congenital benign spinal muscular atrophy
|
(Orphanet:1216)
|
|
Autosomal dominant limb-girdle muscular dystrophy type 1H
|
(Orphanet:238755)
|
|
Autosomal dominant spastic paraplegia type 31
|
(Orphanet:101011)
|
|
Autosomal recessive ataxia due to ubiquinone deficiency
|
(Orphanet:139485)
|
|
Autosomal recessive dopa-responsive dystonia
|
(Orphanet:101150)
|
|
Autosomal recessive epidermolysis bullosa simplex
|
(Orphanet:89838)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2I
|
(Orphanet:34515)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2K
|
(Orphanet:86812)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2L
|
(Orphanet:206549)
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2N
|
(Orphanet:206559)
|
|
Axenfeld-Rieger syndrome
|
(Orphanet:782)
|
|
BILE ACID MALABSORPTION, PRIMARY
|
(OMIM:613291)
|
|
BLEEDING DISORDER, PLATELET-TYPE, 17
|
(OMIM:187900)
|
|
BOR syndrome
|
(Orphanet:107)
|
|
BRANCHIOOTIC SYNDROME 1
|
(OMIM:602588)
|
|
BROWN-VIALETTO-VAN LAERE SYNDROME 2
|
(OMIM:614707)
|
|
Bethlem myopathy
|
(Orphanet:610)
|
|
Björnstad syndrome
|
(Orphanet:123)
|
|
Bleeding diathesis due to glycoprotein VI deficiency
|
(Orphanet:98885)
|
|
CEREBROOCULOFACIOSKELETAL SYNDROME 4
|
(OMIM:610758)
|
|
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4
|
(OMIM:615412)
|
|
Charcot-Marie-Tooth disease type 1A
|
(Orphanet:101081)
|
|
Charcot-Marie-Tooth disease type 1B
|
(Orphanet:101082)
|
|
Charcot-Marie-Tooth disease type 1D
|
(Orphanet:101084)
|
|
Charcot-Marie-Tooth disease type 1F
|
(Orphanet:101085)
|
|
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
|
(Orphanet:309854)
|
|
Congenital factor II deficiency
|
(Orphanet:325)
|
|
Congenital factor VII deficiency
|
(Orphanet:327)
|
|
Congenital factor X deficiency
|
(Orphanet:328)
|
|
Congenital fiber-type disproportion myopathy
|
(Orphanet:2020)
|
|
Congenital muscular dystrophy due to LMNA mutation
|
(Orphanet:157973)
|
|
Congenital muscular dystrophy with cerebellar involvement
|
(Orphanet:370959)
|
|
Congenital muscular dystrophy, Ullrich type
|
(Orphanet:75840)
|
|
Congenital pulmonary lymphangiectasia
|
(Orphanet:2414)
|
|
Constitutional megaloblastic anemia with severe neurologic disease
|
(Orphanet:319651)
|
|
DPAGT1-CDG
|
(Orphanet:86309)
|
|
DPM1-CDG
|
(Orphanet:79322)
|
|
Dejerine-Sottas syndrome
|
(Orphanet:64748)
|
|
Desbuquois syndrome
|
(Orphanet:1425)
|
|
Distal arthrogryposis type 10
|
(Orphanet:251515)
|
|
Distal monosomy 1q
|
(Orphanet:36367)
|
|
Distal myopathy with early respiratory muscle involvement
|
(Orphanet:34521)
|
|
Distal myopathy with vocal cord weakness
|
(Orphanet:600)
|
|
Distal symphalangism
|
(Orphanet:3248)
|
|
EPILEPSY, PROGRESSIVE MYOCLONIC, 5
|
(OMIM:613832)
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
|
(OMIM:613721)
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5
|
(OMIM:613477)
|
|
Emery-Dreifuss muscular dystrophy
|
(Orphanet:261)
|
|
Episodic ataxia type 1
|
(Orphanet:37612)
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP P
|
(OMIM:613951)
|
|
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
|
(Orphanet:93214)
|
|
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
|
(Orphanet:93216)
|
|
Familial infantile myoclonic epilepsy
|
(Orphanet:352582)
|
|
Farber lipogranulomatosis
|
(Orphanet:333)
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
|
(OMIM:604403)
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
|
(OMIM:611277)
|
|
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7
|
(OMIM:613863)
|
|
Glycogen storage disease due to muscle phosphofructokinase deficiency
|
(Orphanet:371)
|
|
Gorlin syndrome
|
(Orphanet:377)
|
|
Greig cephalopolysyndactyly syndrome
|
(Orphanet:380)
|
|
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
|
(OMIM:614779)
|
|
HOLOPROSENCEPHALY 2
|
(OMIM:157170)
|
|
HOLOPROSENCEPHALY 9
|
(OMIM:610829)
|
|
Hidrotic ectodermal dysplasia
|
(Orphanet:189)
|
|
Hypomyelination - congenital cataract
|
(Orphanet:85163)
|
|
Hypomyelination with atrophy of basal ganglia and cerebellum
|
(Orphanet:139441)
|
|
IMMUNODEFICIENCY 17
|
(OMIM:615607)
|
|
IMMUNODEFICIENCY 18
|
(OMIM:615615)
|
|
Ichthyosis follicularis - alopecia - photophobia
|
(Orphanet:2273)
|
|
Jeune syndrome
|
(Orphanet:474)
|
|
Joubert syndrome 21
|
(OMIM:615636)
|
|
Juvenile hyaline fibromatosis
|
(Orphanet:2028)
|
|
Koolen-De Vries syndrome
|
(Orphanet:96169)
|
|
LYMPHOPROLIFERATIVE SYNDROME 2
|
(OMIM:615122)
|
|
Lissencephaly due to LIS1 mutation
|
(Orphanet:95232)
|
|
MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA
|
(OMIM:189490)
|
|
MENTAL RETARDATION, X-LINKED 30
|
(OMIM:300558)
|
|
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
|
(OMIM:249900)
|
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
|
(OMIM:611638)
|
|
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
|
(OMIM:613662)
|
|
MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
|
(OMIM:614741)
|
|
MIYOSHI MUSCULAR DYSTROPHY 3
|
(OMIM:613319)
|
|
MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN-POSITIVE
|
(OMIM:609456)
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14
|
(OMIM:615351)
|
|
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL
|
(OMIM:608930)
|
|
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY
|
(OMIM:608931)
|
|
MYASTHENIC SYNDROME, CONGENITAL, 8
|
(OMIM:615120)
|
|
MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET
|
(OMIM:614399)
|
|
Mitochondrial DNA depletion syndrome, myopathic form
|
(Orphanet:254875)
|
|
Monilethrix
|
(Orphanet:573)
|
|
NEMALINE MYOPATHY 4
|
(OMIM:609285)
|
|
NEMALINE MYOPATHY 9
|
(OMIM:615731)
|
|
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID
|
(OMIM:615575)
|
|
Neurofibromatosis type 3
|
(Orphanet:93921)
|
|
Neutral lipid storage myopathy
|
(Orphanet:98908)
|
|
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE
|
(OMIM:258650)
|
|
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME
|
(OMIM:606721)
|
|
PASSOVOY FACTOR DEFECT
|
(OMIM:168830)
|
|
PORENCEPHALY 2
|
(OMIM:614483)
|
|
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,AUTOSOMAL DOMINANT, 4
|
(OMIM:610131)
|
|
Polyarteritis nodosa, childhood-onset
|
(OMIM:615688)
|
|
Porencephaly
|
(Orphanet:2940)
|
|
Primary basilar impression
|
(Orphanet:2285)
|
|
Progressive osseous heteroplasia
|
(Orphanet:2762)
|
|
Pyruvate dehydrogenase E3-binding protein deficiency
|
(Orphanet:255182)
|
|
Recurrent Neisseria infections due to factor D deficiency
|
(Orphanet:169467)
|
|
Renal glucosuria
|
(Orphanet:69076)
|
|
Rolandic epilepsy - speech dyspraxia
|
(Orphanet:163721)
|
|
Rubinstein-Taybi syndrome due to CREBBP mutations
|
(Orphanet:353277)
|
|
SCHWANNOMATOSIS 2
|
(OMIM:615670)
|
|
Saethre-Chotzen syndrome
|
(Orphanet:794)
|
|
Sanfilippo syndrome type C
|
(Orphanet:79271)
|
|
Solitary median maxillary central incisor syndrome
|
(Orphanet:2286)
|
|
Spheroid body myopathy
|
(Orphanet:268129)
|
|
Spinocerebellar ataxia with axonal neuropathy type 2
|
(Orphanet:64753)
|
|
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
|
(OMIM:612304)
|
|
Thrombocytopenia with congenital dyserythropoietic anemia
|
(Orphanet:67044)
|
|
VACUOLAR NEUROMYOPATHY
|
(OMIM:601846)
|
|
Von Willebrand disease type 2
|
(Orphanet:166081)
|
|
Waardenburg syndrome
|
(Orphanet:3440)
|
|
Waardenburg syndrome type 2
|
(Orphanet:895)
|
|
X-linked dominant chondrodysplasia punctata
|
(Orphanet:35173)
|
|
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
|
(Orphanet:363727)
|
|
X-linked sideroblastic anemia
|
(Orphanet:75563)
|