MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Insulin-resistance syndrome type B

ORPHA:2298Kr.
Not applicable

Insulinoma

ORPHA:97279Kr.
Not applicable

Intellectual disability syndrome due to a DYRK1A point mutation

ORPHA:464311Ätl. subt.
Autosomal dominant

Intellectual disability, Buenos-Aires type

ORPHA:3079Malf.

Intellectual disability, Wolff type

ORPHA:3080Malf.

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483Kr.
X-linked recessive

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

ORPHA:529965Malf.
Autosomal dominant

Intellectual disability-balding-patella luxation-acromicria syndrome

ORPHA:3041Malf.
X-linked recessive

Intellectual disability-brachydactyly-Pierre Robin syndrome

ORPHA:364577Malf.

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

ORPHA:508498Malf.
Autosomal dominant

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

ORPHA:3042Malf.
Autosomal dominant

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

ORPHA:397709Malf.
Autosomal recessive

Intellectual disability-cupped ears syndrome

ORPHA:656135Kr.
Autosomal dominant

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044Malf.
Unknown

Intellectual disability-early-onset cataract-microcephaly syndrome

ORPHA:633035Malf.

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

ORPHA:684232Malf.
Autosomal dominant

Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620Kr.
Autosomal recessive

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

ORPHA:436151Malf.

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

ORPHA:404473Malf.
Unknown

Intellectual disability-facial dysmorphism-hand anomalies syndrome

ORPHA:370010Malf.
Autosomal recessive

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

ORPHA:684216Malf.
Autosomal dominant, Autosomal recessive

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA:369847Kr.
Autosomal recessive

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

ORPHA:1495Malf.
Autosomal recessive

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

ORPHA:314575Malf.
Autosomal recessive