MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

X-linked alpha-thalassemia-intellectual disability syndrome

ORPHA:847Malf.
X-linked recessive

X-linked calvarial hyperostosis

ORPHA:391327Kr.
X-linked recessive

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

ORPHA:329235Kr.
X-linked recessive

X-linked centronuclear myopathy

ORPHA:596Kr.
X-linked recessive

X-linked cerebellar ataxia

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

X-linked cerebral adrenoleukodystrophy

ORPHA:139396Kl. subt.
X-linked recessive

X-linked cerebral-cerebellar-coloboma syndrome

ORPHA:163961Kr.
X-linked recessive

X-linked cleft palate and ankyloglossia

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

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

ORPHA:431140Malf.
X-linked recessive

X-linked combined immunodeficiency due to SASH3 deficiency

ORPHA:653751Kr.
X-linked recessive

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

ORPHA:696945Kr.
X-linked recessive

X-linked complicated corpus callosum dysgenesis

ORPHA:1497Kl. subt.
X-linked recessive

X-linked complicated spastic paraplegia type 1

ORPHA:306617Kl. subt.
X-linked recessive

X-linked cone dysfunction syndrome with myopia

ORPHA:90001Kr.
X-linked recessive

X-linked congenital generalized hypertrichosis

ORPHA:79495Kl. subt.
X-linked dominant

X-linked corneal dermoid

ORPHA:1661Kr.
X-linked recessive

X-linked creatine transporter deficiency

ORPHA:52503Kr.
Not applicable, X-linked recessive

X-linked distal spinal muscular atrophy type 3

ORPHA:139557Kr.
X-linked recessive

X-linked dominant chondrodysplasia punctata

ORPHA:35173Kr.
X-linked dominant

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

ORPHA:163966Kr.
X-linked dominant

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

ORPHA:363727Kr.
X-linked recessive

X-linked dystonia-parkinsonism

ORPHA:53351Kr.
Not applicable, X-linked recessive

X-linked endothelial corneal dystrophy

ORPHA:293621Kr.
X-linked recessive

X-linked epilepsy-learning disabilities-behavior disorders syndrome

ORPHA:85294Kr.
X-linked recessive