15q13.3 microdeletion syndrome
|
(Orphanet:199318)
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1q21.1 microdeletion syndrome
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(Orphanet:250989)
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1q21.1 microduplication syndrome
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(Orphanet:250994)
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ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
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(OMIM:606217)
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Alagille syndrome due to 20p12 microdeletion
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(Orphanet:261600)
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Autosomal dominant Charcot-Marie-Tooth disease type 2A2
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(Orphanet:99947)
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Autosomal dominant Charcot-Marie-Tooth disease type 2C
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(Orphanet:99937)
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Autosomal dominant congenital benign spinal muscular atrophy
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(Orphanet:1216)
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Autosomal dominant epilepsy with auditory features
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(Orphanet:101046)
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Autosomal dominant hypophosphatemic rickets
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(Orphanet:89937)
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Autosomal dominant limb-girdle muscular dystrophy type 1H
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(Orphanet:238755)
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Autosomal dominant nocturnal frontal lobe epilepsy
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(Orphanet:98784)
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Autosomal dominant optic atrophy, classic type
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(Orphanet:98673)
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Autosomal dominant spastic paraplegia type 3
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(Orphanet:100984)
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BOR syndrome
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(Orphanet:107)
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BRANCHIOOTIC SYNDROME 1
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(OMIM:602588)
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CHROMOSOME 15q11.2 DELETION SYNDROME
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(OMIM:615656)
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CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, SUSCEPTIBILITY TO
|
(OMIM:610805)
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Chronic respiratory distress with surfactant metabolism deficiency
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(Orphanet:217566)
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Currarino triad
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(Orphanet:1552)
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DANDY-WALKER MALFORMATION WITH OCCIPITAL CEPHALOCELE, AUTOSOMAL DOMINANT
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(OMIM:609222)
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DYSTONIA 24
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(OMIM:615034)
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EPILEPSY, FAMILIAL TEMPORAL LOBE, 4
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(OMIM:611631)
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EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
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(OMIM:614847)
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Early-onset generalized limb-onset dystonia
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(Orphanet:256)
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Familial Dupuytren contracture
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(Orphanet:79142)
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Familial acute necrotizing encephalopathy
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(Orphanet:88619)
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Familial clubfoot with or without associated lower limb anomalies
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(Orphanet:199315)
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Familial congenital mirror movements
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(Orphanet:238722)
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Familial focal epilepsy with variable foci
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(Orphanet:98820)
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Familial leiomyomatosis
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(Orphanet:523)
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Familial multiple meningioma
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(Orphanet:263662)
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Familial papillary renal cell carcinoma
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(Orphanet:47044)
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Familial paroxysmal ataxia
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(Orphanet:97)
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Familial spontaneous pneumothorax
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(Orphanet:2903)
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Familial temporal epilepsy
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(Orphanet:98819)
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Fragile X syndrome
|
(Orphanet:908)
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Generalized epilepsy with febrile seizures-plus context
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(Orphanet:36387)
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HOLOPROSENCEPHALY 2
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(OMIM:157170)
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HOLOPROSENCEPHALY 9
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(OMIM:610829)
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Hemihypertrophy
|
(Orphanet:2128)
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Hereditary cerebral cavernous malformation
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(Orphanet:221061)
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Hereditary coproporphyria
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(Orphanet:79273)
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Hereditary pheochromocytoma-paraganglioma
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(Orphanet:29072)
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Holoprosencephaly
|
(Orphanet:2162)
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Hot water reflex epilepsy
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(Orphanet:166412)
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Hypokalemic periodic paralysis
|
(Orphanet:681)
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Idiopathic and/or familial pulmonary arterial hypertension
|
(Orphanet:422)
|
LYMPHEDEMA, HEREDITARY, IB
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(OMIM:611944)
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LYMPHEDEMA, HEREDITARY, IC
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(OMIM:613480)
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Lissencephaly type 1 due to doublecortin gene mutation
|
(Orphanet:2148)
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MALPOSITION OF TEETH WITH OR WITHOUT HYPODONTIA/OLIGODONTIA
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(OMIM:189490)
|
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
|
(OMIM:611638)
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MIGRAINE, FAMILIAL HEMIPLEGIC, 2
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(OMIM:602481)
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MIRROR MOVEMENTS 2
|
(OMIM:614508)
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Myoclonus-dystonia syndrome
|
(Orphanet:36899)
|
Neuroblastoma
|
(Orphanet:635)
|
Neurofibromatosis type 3
|
(Orphanet:93921)
|
OTOSCLEROSIS 3
|
(OMIM:608244)
|
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
|
(OMIM:607060)
|
PAROXYSMAL NONKINESIGENIC DYSKINESIA 2
|
(OMIM:611147)
|
PORENCEPHALY 2
|
(OMIM:614483)
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
|
(OMIM:614742)
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
|
(OMIM:614743)
|
PULMONARY HYPERTENSION, PRIMARY, 2
|
(OMIM:615342)
|
PULMONARY HYPERTENSION, PRIMARY, 3
|
(OMIM:615343)
|
Paroxysmal exertion-induced dyskinesia
|
(Orphanet:98811)
|
Paroxysmal kinesigenic dyskinesia
|
(Orphanet:98809)
|
Primary basilar impression
|
(Orphanet:2285)
|
Primary dystonia, DYT6 type
|
(Orphanet:98806)
|
RETINITIS PIGMENTOSA 11
|
(OMIM:600138)
|
Rapid-onset dystonia-parkinsonism
|
(Orphanet:71517)
|
Rolandic epilepsy - speech dyspraxia
|
(Orphanet:163721)
|
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
|
(OMIM:181405)
|
SCHWANNOMATOSIS 2
|
(OMIM:615670)
|
SEIZURES, BENIGN FAMILIAL INFANTILE, 2
|
(OMIM:605751)
|
SPECIFIC LANGUAGE IMPAIRMENT 5
|
(OMIM:615432)
|
SPLIT-HAND/FOOT MALFORMATION 6
|
(OMIM:225300)
|
Spinocerebellar ataxia type 10
|
(Orphanet:98761)
|
Spinocerebellar ataxia type 14
|
(Orphanet:98763)
|
Tibial muscular dystrophy
|
(Orphanet:609)
|
Tufted angioma
|
(Orphanet:1063)
|
Von Willebrand disease type 1
|
(Orphanet:166078)
|
X-linked Charcot-Marie-Tooth disease type 1
|
(Orphanet:101075)
|
X-linked myopathy with excessive autophagy
|
(Orphanet:25980)
|