MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

X-linked alpha-thalassemia-intellectual disability syndrome

ORPHA:847Мальф.
X-linked recessive

X-linked calvarial hyperostosis

ORPHA:391327Ауру
X-linked recessive

X-linked central congenital hypothyroidism with late-onset testicular enlargement

ORPHA:329235Ауру
X-linked recessive

X-linked centronuclear myopathy

ORPHA:596Ауру
X-linked recessive

X-linked cerebellar ataxia

ORPHA:247765Сан.
X-linked dominant, X-linked recessive

X-linked cerebral adrenoleukodystrophy

ORPHA:139396Клин. под.
X-linked recessive

X-linked cerebral-cerebellar-coloboma syndrome

ORPHA:163961Ауру
X-linked recessive

X-linked cleft palate and ankyloglossia

ORPHA:324601Мальф.
X-linked dominant, X-linked recessive

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

ORPHA:431140Мальф.
X-linked recessive

X-linked combined immunodeficiency due to SASH3 deficiency

ORPHA:653751Ауру
X-linked recessive

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

ORPHA:696945Ауру
X-linked recessive

X-linked complicated corpus callosum dysgenesis

ORPHA:1497Клин. под.
X-linked recessive

X-linked complicated spastic paraplegia type 1

ORPHA:306617Клин. под.
X-linked recessive

X-linked cone dysfunction syndrome with myopia

ORPHA:90001Ауру
X-linked recessive

X-linked congenital generalized hypertrichosis

ORPHA:79495Клин. под.
X-linked dominant

X-linked corneal dermoid

ORPHA:1661Ауру
X-linked recessive

X-linked creatine transporter deficiency

ORPHA:52503Ауру
Not applicable, X-linked recessive

X-linked distal spinal muscular atrophy type 3

ORPHA:139557Ауру
X-linked recessive

X-linked dominant chondrodysplasia punctata

ORPHA:35173Ауру
X-linked dominant

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

ORPHA:163966Ауру
X-linked dominant

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

ORPHA:363727Ауру
X-linked recessive

X-linked dystonia-parkinsonism

ORPHA:53351Ауру
Not applicable, X-linked recessive

X-linked endothelial corneal dystrophy

ORPHA:293621Ауру
X-linked recessive

X-linked epilepsy-learning disabilities-behavior disorders syndrome

ORPHA:85294Ауру
X-linked recessive