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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

Intellectual disability, Wolff type

ORPHA:3080Мальф.

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

ORPHA:529965Мальф.
Autosomal dominant

Intellectual disability-balding-patella luxation-acromicria syndrome

ORPHA:3041Мальф.
X-linked recessive

Intellectual disability-brachydactyly-Pierre Robin syndrome

ORPHA:364577Мальф.

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

ORPHA:508498Мальф.
Autosomal dominant

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

ORPHA:3042Мальф.
Autosomal dominant

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

ORPHA:397709Мальф.
Autosomal recessive

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044Мальф.
Unknown

Intellectual disability-early-onset cataract-microcephaly syndrome

ORPHA:633035Мальф.

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

ORPHA:684232Мальф.
Autosomal dominant

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

ORPHA:436151Мальф.

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

ORPHA:404473Мальф.
Unknown

Intellectual disability-facial dysmorphism-hand anomalies syndrome

ORPHA:370010Мальф.
Autosomal recessive

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

ORPHA:684216Мальф.
Autosomal dominant, Autosomal recessive

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

ORPHA:1495Мальф.
Autosomal recessive

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

ORPHA:314575Мальф.
Autosomal recessive

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

ORPHA:684226Мальф.
Autosomal dominant

Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome

ORPHA:694956Мальф.
Autosomal dominant

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

ORPHA:457279Мальф.
Autosomal dominant

Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

ORPHA:457365Мальф.
Unknown

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

ORPHA:697760Мальф.
Autosomal dominant

Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency

ORPHA:694937Мальф.
Autosomal recessive

Intellectual disability-polydactyly-uncombable hair syndrome

ORPHA:3082Мальф.

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

ORPHA:369837Мальф.
Autosomal recessive