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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 1,772 заболеваний (Мальф.) Қалпына келтіру

Mesomelic dysplasia, Nievergelt type

ORPHA:2633Мальф.
Autosomal dominant

Mesomelic dysplasia, Savarirayan type

ORPHA:85170Мальф.
Not applicable

Mesomelic dysplasia-digital anomalies-intellectual disability syndrome

ORPHA:632603Мальф.

Metachondromatosis

ORPHA:2499Мальф.
Autosomal dominant

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

ORPHA:2502Мальф.
Autosomal recessive

Metaphyseal dysplasia, Braun-Tinschert type

ORPHA:85188Мальф.

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome

ORPHA:2504Мальф.
Autosomal dominant

Methimazole embryofetopathy

ORPHA:1923Мальф.
Not applicable

Micro syndrome

ORPHA:2510Мальф.
Autosomal recessive

Microbrachycephaly-ptosis-cleft lip syndrome

ORPHA:2511Мальф.
Autosomal recessive

Microcephalic cortical malformations-short stature due to RTTN deficiency

ORPHA:468631Мальф.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism type II

ORPHA:2637Мальф.
Autosomal recessive

Microcephalic osteodysplastic primordial dwarfism types I and III

ORPHA:2636Мальф.
Autosomal recessive

Microcephalic primordial dwarfism due to ZNF335 deficiency

ORPHA:329228Мальф.
Autosomal recessive

Microcephalic primordial dwarfism, Dauber type

ORPHA:319675Мальф.
Autosomal recessive

Microcephalic primordial dwarfism, Montreal type

ORPHA:2617Мальф.

Microcephalic primordial dwarfism, Toriello type

ORPHA:2643Мальф.

Microcephalic primordial dwarfism-insulin resistance syndrome

ORPHA:436182Мальф.
Autosomal recessive

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