MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

ORPHA:423306Мальформация
Autosomal recessive

Microcephaly-short stature-limb abnormalities syndrome

ORPHA:572773Клин. подтип
Autosomal recessive

Microcephaly-thin corpus callosum-intellectual disability syndrome

ORPHA:397951Заболевание
Autosomal recessive

Microcornea-glaucoma-absent frontal sinuses syndrome

ORPHA:2536Мальформация

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

ORPHA:369970Заболевание
Autosomal recessive

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

ORPHA:231736Мальформация
Unknown

Microcystic lymphatic malformation

ORPHA:79490Мальформация
Not applicable

Microcystic stromal tumor

ORPHA:569248Заболевание

Microcytic anemia with liver iron overload

ORPHA:83642Заболевание
Autosomal recessive

Microduplication Xp11.22p11.23 syndrome

ORPHA:217377Мальформация
Not applicable, X-linked dominant

Microform holoprosencephaly

ORPHA:280200Мальформация
Multigenic/multifactorial

Microgastria-limb reduction defect syndrome

ORPHA:2538Мальформация
Not applicable

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

ORPHA:476126Мальформация
Autosomal dominant

Microlissencephaly

ORPHA:1083Морф. аномалия
Autosomal recessive

Microlissencephaly-micromelia syndrome

ORPHA:50810Мальформация
Autosomal recessive

Microphthalmia with brain and digit anomalies

ORPHA:139471Мальформация
Autosomal dominant

Microphthalmia with limb anomalies

ORPHA:1106Мальформация
Autosomal recessive

Microphthalmia with linear skin defects syndrome

ORPHA:2556Мальформация
X-linked dominant

Microphthalmia, Lenz type

ORPHA:568Мальформация
X-linked recessive

Microphthalmia-ankyloblepharon-intellectual disability syndrome

ORPHA:85275Мальформация
X-linked recessive

Microphthalmia-anophthalmia-coloboma

ORPHA:98555Категория
Autosomal dominant, Autosomal recessive, X-linked recessive

Microphthalmia-brain atrophy syndrome

ORPHA:77299Мальформация
Autosomal recessive

Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547Мальформация

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

ORPHA:689829Заболевание
Autosomal dominant, Autosomal recessive