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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 1,772 заболеваний (Malform.) Сброс

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

ORPHA:329332Malform.
Autosomal recessive

Microcephaly-cervical spine fusion anomalies syndrome

ORPHA:2522Malform.
Autosomal recessive

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

ORPHA:2521Malform.
Unknown

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

ORPHA:488168Malform.
Autosomal recessive

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

ORPHA:500159Malform.
Autosomal dominant

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

ORPHA:457284Malform.
Autosomal dominant

Microcephaly-deafness-intellectual disability syndrome

ORPHA:2533Malform.

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

ORPHA:521445Malform.
Autosomal dominant

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

ORPHA:217026Malform.
Unknown

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

ORPHA:2172Malform.
Autosomal recessive

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

ORPHA:662179Malform.
Autosomal dominant

Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome

ORPHA:457351Malform.
Autosomal recessive

Microcephaly-lymphedema-chorioretinopathy syndrome

ORPHA:2526Malform.
Autosomal dominant

Microcephaly-microcornea syndrome, Seemanova type

ORPHA:2528Malform.

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

ORPHA:171703Malform.
Autosomal recessive

Microcephaly-seizures-intellectual disability-heart disease syndrome

ORPHA:2519Malform.
Unknown

Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome

ORPHA:423306Malform.
Autosomal recessive

Microcornea-glaucoma-absent frontal sinuses syndrome

ORPHA:2536Malform.

Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome

ORPHA:231736Malform.
Unknown

Microcystic lymphatic malformation

ORPHA:79490Malform.
Not applicable

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