MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

ORPHA:423306Malf.
Autosomal recessive

Microcephaly-short stature-limb abnormalities syndrome

ORPHA:572773Kl. subt.
Autosomal recessive

Microcephaly-thin corpus callosum-intellectual disability syndrome

ORPHA:397951Kr.
Autosomal recessive

Microcornea-glaucoma-absent frontal sinuses syndrome

ORPHA:2536Malf.

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

ORPHA:369970Kr.
Autosomal recessive

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

ORPHA:231736Malf.
Unknown

Microcystic lymphatic malformation

ORPHA:79490Malf.
Not applicable

Microcystic stromal tumor

ORPHA:569248Kr.

Microcytic anemia with liver iron overload

ORPHA:83642Kr.
Autosomal recessive

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

Microlissencephaly

ORPHA:1083Morph.
Autosomal recessive

Microlissencephaly-micromelia syndrome

ORPHA:50810Malf.
Autosomal recessive

Microphthalmia with brain and digit anomalies

ORPHA:139471Malf.
Autosomal dominant

Microphthalmia with limb anomalies

ORPHA:1106Malf.
Autosomal recessive

Microphthalmia with linear skin defects syndrome

ORPHA:2556Malf.
X-linked dominant

Microphthalmia, Lenz type

ORPHA:568Malf.
X-linked recessive

Microphthalmia-ankyloblepharon-intellectual disability syndrome

ORPHA:85275Malf.
X-linked recessive

Microphthalmia-anophthalmia-coloboma

ORPHA:98555Kat.
Autosomal dominant, Autosomal recessive, X-linked recessive

Microphthalmia-brain atrophy syndrome

ORPHA:77299Malf.
Autosomal recessive

Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547Malf.

Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome

ORPHA:689829Kr.
Autosomal dominant, Autosomal recessive