MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

ORPHA:423306Malform.
Autosomal recessive

Microcephaly-short stature-limb abnormalities syndrome

ORPHA:572773Clin. sub.
Autosomal recessive

Microcephaly-thin corpus callosum-intellectual disability syndrome

ORPHA:397951Disease
Autosomal recessive

Microcornea-glaucoma-absent frontal sinuses syndrome

ORPHA:2536Malform.

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

ORPHA:369970Disease
Autosomal recessive

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

ORPHA:231736Malform.
Unknown

Microcystic lymphatic malformation

ORPHA:79490Malform.
Not applicable

Microcystic stromal tumor

ORPHA:569248Disease

Microcytic anemia with liver iron overload

ORPHA:83642Disease
Autosomal recessive

Microduplication Xp11.22p11.23 syndrome

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

Microform holoprosencephaly

ORPHA:280200Malform.
Multigenic/multifactorial

Microgastria-limb reduction defect syndrome

ORPHA:2538Malform.
Not applicable

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

ORPHA:476126Malform.
Autosomal dominant

Microlissencephaly

ORPHA:1083Morph.
Autosomal recessive

Microlissencephaly-micromelia syndrome

ORPHA:50810Malform.
Autosomal recessive

Microphthalmia with brain and digit anomalies

ORPHA:139471Malform.
Autosomal dominant

Microphthalmia with limb anomalies

ORPHA:1106Malform.
Autosomal recessive

Microphthalmia with linear skin defects syndrome

ORPHA:2556Malform.
X-linked dominant

Microphthalmia, Lenz type

ORPHA:568Malform.
X-linked recessive

Microphthalmia-ankyloblepharon-intellectual disability syndrome

ORPHA:85275Malform.
X-linked recessive

Microphthalmia-anophthalmia-coloboma

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

Microphthalmia-brain atrophy syndrome

ORPHA:77299Malform.
Autosomal recessive

Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547Malform.

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

ORPHA:689829Disease
Autosomal dominant, Autosomal recessive