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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Microcephaly-albinism-digital anomalies syndrome

ORPHA:2513Порок
Unknown

Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433Порок
Autosomal recessive

Microcephaly-brain defect-spasticity-hypernatremia syndrome

ORPHA:2523Порок

Microcephaly-capillary malformation syndrome

ORPHA:294016Порок
Autosomal recessive

Microcephaly-cardiac defect-lung malsegmentation syndrome

ORPHA:2516Порок
Autosomal recessive

Microcephaly-cardiomyopathy syndrome

ORPHA:2515Порок
Autosomal recessive

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

ORPHA:329332Порок
Autosomal recessive

Microcephaly-cervical spine fusion anomalies syndrome

ORPHA:2522Порок
Autosomal recessive

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

ORPHA:2521Порок
Unknown

Microcephaly-complex motor and sensory axonal neuropathy syndrome

ORPHA:423894Заболевание
Autosomal recessive

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

ORPHA:488168Порок
Autosomal recessive

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

ORPHA:500159Порок
Autosomal dominant

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

ORPHA:457284Порок
Autosomal dominant

Microcephaly-deafness-intellectual disability syndrome

ORPHA:2533Порок

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

ORPHA:521445Порок
Autosomal dominant

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

ORPHA:217026Порок
Unknown

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

ORPHA:2172Порок
Autosomal recessive

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

ORPHA:662179Порок
Autosomal dominant

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

ORPHA:457351Порок
Autosomal recessive

Microcephaly-lymphedema-chorioretinopathy syndrome

ORPHA:2526Порок
Autosomal dominant

Microcephaly-microcornea syndrome, Seemanova type

ORPHA:2528Порок

Microcephaly-micromelia syndrome

ORPHA:572768Клин. подт.
Autosomal recessive

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

ORPHA:171703Порок
Autosomal recessive

Microcephaly-seizures-intellectual disability-heart disease syndrome

ORPHA:2519Порок
Unknown