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

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-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-polymicrogyria-corpus callosum agenesis syndrome

ORPHA:171703Malf.
Autosomal recessive

Microcephaly-seizures-intellectual disability-heart disease syndrome

ORPHA:2519Malf.
Unknown

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

ORPHA:423306Malf.
Autosomal recessive

Microcornea-glaucoma-absent frontal sinuses syndrome

ORPHA:2536Malf.

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

ORPHA:231736Malf.
Unknown

Microcystic lymphatic malformation

ORPHA:79490Malf.
Not applicable

Microduplication Xp11.22p11.23 syndrome

ORPHA:217377Malf.
Not applicable, X-linked dominant

Microform holoprosencephaly

ORPHA:280200Malf.
Multigenic/multifactorial

Microgastria-limb reduction defect syndrome

ORPHA:2538Malf.
Not applicable

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

ORPHA:476126Malf.
Autosomal dominant