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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

EEM syndrome

ORPHA:1897Мальф.
Autosomal recessive

EN1-related dorsoventral syndrome

ORPHA:611223Мальф.

EPHB4-related capillary malformation-arteriovenous malformation

ORPHA:693912Мальф.
Autosomal dominant

EVEN-plus syndrome

ORPHA:496751Мальф.
Autosomal recessive

Ear-patella-short stature syndrome

ORPHA:2554Мальф.
Autosomal dominant, Autosomal recessive

Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

ORPHA:411986Мальф.
Autosomal recessive

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

ORPHA:496641Мальф.
Autosomal recessive

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

ORPHA:500144Мальф.
Autosomal recessive

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

ORPHA:505237Мальф.
Autosomal recessive

Ectodermal dysplasia with agenesis of maxillary lateral incisors and mandibular anterior teeth

ORPHA:708036Мальф.
Autosomal recessive

Ectodermal dysplasia with natal teeth, Turnpenny type

ORPHA:69083Мальф.
Autosomal dominant

Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples

ORPHA:708043Мальф.
Autosomal dominant

Ectodermal dysplasia, trichoodontoonychial type

ORPHA:1818Мальф.

Ectodermal dysplasia-blindness syndrome

ORPHA:1806Мальф.
Autosomal recessive

Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome

ORPHA:247827Мальф.
Autosomal recessive

Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome

ORPHA:1812Мальф.
X-linked recessive

Ectodermal dysplasia-natal teeth-skin abscesses-plantar hyperkeratosis-hearing impairment

ORPHA:708014Мальф.

Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

ORPHA:247820Мальф.
Autosomal recessive

Ectodermal dysplasia-sensorineural deafness syndrome

ORPHA:1883Мальф.
Autosomal recessive

Ectrodactyly-polydactyly syndrome

ORPHA:1892Мальф.

Edinburgh malformation syndrome

ORPHA:1895Мальф.
Unknown

Eiken syndrome

ORPHA:79106Мальф.
Autosomal recessive

Eisenmenger syndrome

ORPHA:97214Мальф.
Not applicable

Ellis Van Creveld syndrome

ORPHA:289Мальф.
Autosomal recessive