MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 1,772 заболеваний (Мальформация)Сбросить

Intellectual disability, Wolff type

ORPHA:3080Мальформация

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

ORPHA:529965Мальформация
Autosomal dominant

Intellectual disability-balding-patella luxation-acromicria syndrome

ORPHA:3041Мальформация
X-linked recessive

Intellectual disability-brachydactyly-Pierre Robin syndrome

ORPHA:364577Мальформация

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

ORPHA:508498Мальформация
Autosomal dominant

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

ORPHA:3042Мальформация
Autosomal dominant

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

ORPHA:397709Мальформация
Autosomal recessive

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044Мальформация
Unknown

Intellectual disability-early-onset cataract-microcephaly syndrome

ORPHA:633035Мальформация

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

ORPHA:684232Мальформация
Autosomal dominant

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

ORPHA:436151Мальформация

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

ORPHA:404473Мальформация
Unknown

Intellectual disability-facial dysmorphism-hand anomalies syndrome

ORPHA:370010Мальформация
Autosomal recessive

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

ORPHA:684216Мальформация
Autosomal dominant, Autosomal recessive

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

ORPHA:1495Мальформация
Autosomal recessive

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

ORPHA:314575Мальформация
Autosomal recessive

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

ORPHA:684226Мальформация
Autosomal dominant

Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome

ORPHA:694956Мальформация
Autosomal dominant

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

ORPHA:457279Мальформация
Autosomal dominant

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

ORPHA:457365Мальформация
Unknown

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

ORPHA:697760Мальформация
Autosomal dominant

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

ORPHA:694937Мальформация
Autosomal recessive

Intellectual disability-polydactyly-uncombable hair syndrome

ORPHA:3082Мальформация

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

ORPHA:369837Мальформация
Autosomal recessive