MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
1,772 Erkrankungen gefunden (Malf.) Zurücksetzen

X-linked intellectual disability, Pai type

ORPHA:85322Malf.
X-linked recessive

X-linked intellectual disability, Schimke type

ORPHA:85285Malf.
X-linked recessive

X-linked intellectual disability, Shashi type

ORPHA:85286Malf.
X-linked recessive

X-linked intellectual disability, Shrimpton type

ORPHA:85324Malf.
X-linked recessive

X-linked intellectual disability, Siderius type

ORPHA:85287Malf.
X-linked recessive

X-linked intellectual disability, Stevenson type

ORPHA:85325Malf.
X-linked recessive

X-linked intellectual disability, Stocco Dos Santos type

ORPHA:85288Malf.
X-linked recessive

X-linked intellectual disability, Stoll type

ORPHA:85326Malf.
X-linked recessive

X-linked intellectual disability, Van Esch type

ORPHA:163976Malf.
X-linked recessive

X-linked intellectual disability, Wilson type

ORPHA:85290Malf.
X-linked dominant, X-linked recessive

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

ORPHA:1568Malf.
X-linked recessive

X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome

ORPHA:459070Malf.
X-linked recessive

X-linked intellectual disability-cubitus valgus-dysmorphism syndrome

ORPHA:85280Malf.
X-linked recessive

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

ORPHA:2958Malf.
X-linked recessive

X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome

ORPHA:85319Malf.
X-linked recessive

X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome

ORPHA:480907Malf.
X-linked recessive

X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome

ORPHA:85317Malf.
X-linked recessive

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

ORPHA:3055Malf.
X-linked recessive

X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome

ORPHA:85329Malf.
X-linked recessive

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

ORPHA:85320Malf.
X-linked recessive

X-linked intellectual disability-plagiocephaly syndrome

ORPHA:2898Malf.
X-linked recessive

X-linked intellectual disability-psychosis-macroorchidism syndrome

ORPHA:3077Malf.
X-linked dominant

X-linked intellectual disability-short stature-overweight syndrome

ORPHA:457240Malf.
X-linked recessive

X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome

ORPHA:482606Malf.
X-linked recessive