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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Short rib-polydactyly syndrome, Verma-Naumoff type

ORPHA:93271Мальф.
Autosomal recessive

Short stature due to GHSR deficiency

ORPHA:314811Ауру
Autosomal dominant, Autosomal recessive

Short stature due to growth hormone qualitative anomaly

ORPHA:629Клин. под.
Autosomal recessive

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ORPHA:632Клин. под.
X-linked recessive

Short stature due to partial GHR deficiency

ORPHA:314802Ауру
Unknown

Short stature due to primary acid-labile subunit deficiency

ORPHA:140941Ауру
Autosomal recessive

Short stature, Brussels type

ORPHA:2867Мальф.
Unknown

Short stature-advanced bone age-early-onset osteoarthritis syndrome

ORPHA:435804Ауру
Autosomal dominant

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

ORPHA:397623Мальф.
Autosomal recessive

Short stature-brachydactyly-obesity-global developmental delay syndrome

ORPHA:464288Мальф.
Autosomal recessive

Short stature-craniofacial anomalies-genital hypoplasia syndrome

ORPHA:2994Мальф.

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

ORPHA:2866Мальф.

Short stature-delayed bone age due to thyroid hormone metabolism deficiency

ORPHA:171706Ауру
Autosomal recessive

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

ORPHA:314394Ауру
Autosomal recessive

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

ORPHA:391677Мальф.
Autosomal recessive

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

ORPHA:85442Ауру
Autosomal dominant

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

ORPHA:589442Мальф.
Autosomal recessive

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Мальф.
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Мальф.
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Мальф.

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Мальф.
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Мальф.
Autosomal recessive

Short-limb skeletal dysplasia with severe combined immunodeficiency

ORPHA:935Ауру
Not applicable

Shprintzen-Goldberg syndrome

ORPHA:2462Мальф.
Autosomal dominant, Multigenic/multifactorial, Not applicable