MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

ORPHA:684226Malf.
Autosomal dominant

Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome

ORPHA:694956Malf.
Autosomal dominant

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

ORPHA:457279Malf.
Autosomal dominant

Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

ORPHA:457365Malf.
Unknown

Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Kr.

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

ORPHA:697760Malf.
Autosomal dominant

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation

ORPHA:697764Ätl. subt.
Autosomal dominant

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Kr.
Autosomal recessive

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

ORPHA:397973Kr.
Autosomal recessive

Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency

ORPHA:694937Malf.
Autosomal recessive

Intellectual disability-polydactyly-uncombable hair syndrome

ORPHA:3082Malf.

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Kr.
Autosomal dominant

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

ORPHA:369837Malf.
Autosomal recessive

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Kr.
Not applicable, Unknown

Intellectual disability-short stature-hypertelorism syndrome

ORPHA:3074Malf.

Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome

ORPHA:708203Malf.
X-linked dominant

Intellectual disability-spasticity-ectrodactyly syndrome

ORPHA:1891Malf.

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

ORPHA:662829Kr.
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Kr.
Autosomal recessive

Interatrial communication

ORPHA:1478Morph.
Autosomal dominant, Not applicable

Interdigitating dendritic cell sarcoma

ORPHA:86900Kr.

Intermediate DEND syndrome

ORPHA:99989Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Kr.
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Kr.
Autosomal dominant