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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Microcephaly-albinism-digital anomalies syndrome

ORPHA:2513Мальф.
Unknown

Microcephaly-brachydactyly-kyphoscoliosis syndrome

ORPHA:3433Мальф.
Autosomal recessive

Microcephaly-brain defect-spasticity-hypernatremia syndrome

ORPHA:2523Мальф.

Microcephaly-capillary malformation syndrome

ORPHA:294016Мальф.
Autosomal recessive

Microcephaly-cardiac defect-lung malsegmentation syndrome

ORPHA:2516Мальф.
Autosomal recessive

Microcephaly-cardiomyopathy syndrome

ORPHA:2515Мальф.
Autosomal recessive

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

ORPHA:329332Мальф.
Autosomal recessive

Microcephaly-cervical spine fusion anomalies syndrome

ORPHA:2522Мальф.
Autosomal recessive

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

ORPHA:2521Мальф.
Unknown

Microcephaly-complex motor and sensory axonal neuropathy syndrome

ORPHA:423894Ауру
Autosomal recessive

Microcephaly-congenital cataract-psoriasiform dermatitis syndrome

ORPHA:488168Мальф.
Autosomal recessive

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

ORPHA:500159Мальф.
Autosomal dominant

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

ORPHA:457284Мальф.
Autosomal dominant

Microcephaly-deafness-intellectual disability syndrome

ORPHA:2533Мальф.

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

ORPHA:521445Мальф.
Autosomal dominant

Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type

ORPHA:217026Мальф.
Unknown

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

ORPHA:2172Мальф.
Autosomal recessive

Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome

ORPHA:662179Мальф.
Autosomal dominant

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

ORPHA:457351Мальф.
Autosomal recessive

Microcephaly-lymphedema-chorioretinopathy syndrome

ORPHA:2526Мальф.
Autosomal dominant

Microcephaly-microcornea syndrome, Seemanova type

ORPHA:2528Мальф.

Microcephaly-micromelia syndrome

ORPHA:572768Клин. под.
Autosomal recessive

Microcephaly-polymicrogyria-corpus callosum agenesis syndrome

ORPHA:171703Мальф.
Autosomal recessive

Microcephaly-seizures-intellectual disability-heart disease syndrome

ORPHA:2519Мальф.
Unknown