MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Microcephaly-albinism-digital anomalies syndrome

ORPHA:2513Malf.
Unknown

Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433Malf.
Autosomal recessive

Microcephaly-brain defect-spasticity-hypernatremia syndrome

ORPHA:2523Malf.

Microcephaly-capillary malformation syndrome

ORPHA:294016Malf.
Autosomal recessive

Microcephaly-cardiac defect-lung malsegmentation syndrome

ORPHA:2516Malf.
Autosomal recessive

Microcephaly-cardiomyopathy syndrome

ORPHA:2515Malf.
Autosomal recessive

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

ORPHA:329332Malf.
Autosomal recessive

Microcephaly-cervical spine fusion anomalies syndrome

ORPHA:2522Malf.
Autosomal recessive

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

ORPHA:2521Malf.
Unknown

Microcephaly-complex motor and sensory axonal neuropathy syndrome

ORPHA:423894Kr.
Autosomal recessive

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

ORPHA:488168Malf.
Autosomal recessive

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

ORPHA:500159Malf.
Autosomal dominant

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

ORPHA:457284Malf.
Autosomal dominant

Microcephaly-deafness-intellectual disability syndrome

ORPHA:2533Malf.

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

ORPHA:521445Malf.
Autosomal dominant

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

ORPHA:217026Malf.
Unknown

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

ORPHA:2172Malf.
Autosomal recessive

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

ORPHA:662179Malf.
Autosomal dominant

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

ORPHA:457351Malf.
Autosomal recessive

Microcephaly-lymphedema-chorioretinopathy syndrome

ORPHA:2526Malf.
Autosomal dominant

Microcephaly-microcornea syndrome, Seemanova type

ORPHA:2528Malf.

Microcephaly-micromelia syndrome

ORPHA:572768Kl. subt.
Autosomal recessive

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

ORPHA:171703Malf.
Autosomal recessive

Microcephaly-seizures-intellectual disability-heart disease syndrome

ORPHA:2519Malf.
Unknown