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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

ORPHA:423306Порок
Autosomal recessive

Microcephaly-short stature-limb abnormalities syndrome

ORPHA:572773Клин. подт.
Autosomal recessive

Microcephaly-thin corpus callosum-intellectual disability syndrome

ORPHA:397951Заболевание
Autosomal recessive

Microcornea-glaucoma-absent frontal sinuses syndrome

ORPHA:2536Порок

Microcornea-myopic chorioretinal atrophy-telecanthus syndrome

ORPHA:369970Заболевание
Autosomal recessive

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

ORPHA:231736Порок
Unknown

Microcystic lymphatic malformation

ORPHA:79490Порок
Not applicable

Microcystic stromal tumor

ORPHA:569248Заболевание

Microcytic anemia with liver iron overload

ORPHA:83642Заболевание
Autosomal recessive

Microduplication Xp11.22p11.23 syndrome

ORPHA:217377Порок
Not applicable, X-linked dominant

Microform holoprosencephaly

ORPHA:280200Порок
Multigenic/multifactorial

Microgastria-limb reduction defect syndrome

ORPHA:2538Порок
Not applicable

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

ORPHA:476126Порок
Autosomal dominant

Microlissencephaly

ORPHA:1083Морф.
Autosomal recessive

Microlissencephaly-micromelia syndrome

ORPHA:50810Порок
Autosomal recessive

Microphthalmia with brain and digit anomalies

ORPHA:139471Порок
Autosomal dominant

Microphthalmia with limb anomalies

ORPHA:1106Порок
Autosomal recessive

Microphthalmia with linear skin defects syndrome

ORPHA:2556Порок
X-linked dominant

Microphthalmia, Lenz type

ORPHA:568Порок
X-linked recessive

Microphthalmia-ankyloblepharon-intellectual disability syndrome

ORPHA:85275Порок
X-linked recessive

Microphthalmia-anophthalmia-coloboma

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

Microphthalmia-brain atrophy syndrome

ORPHA:77299Порок
Autosomal recessive

Microphthalmia-microtia-fetal akinesia syndrome

ORPHA:2547Порок

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

ORPHA:689829Заболевание
Autosomal dominant, Autosomal recessive