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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

ORPHA:684226Malform.
Autosomal dominant

Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome

ORPHA:694956Malform.
Autosomal dominant

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

ORPHA:457279Malform.
Autosomal dominant

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

ORPHA:457365Malform.
Unknown

Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Disease

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

ORPHA:697760Malform.
Autosomal dominant

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation

ORPHA:697764Etio. sub.
Autosomal dominant

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Disease
Autosomal recessive

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

ORPHA:397973Disease
Autosomal recessive

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

ORPHA:694937Malform.
Autosomal recessive

Intellectual disability-polydactyly-uncombable hair syndrome

ORPHA:3082Malform.

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Disease
Autosomal dominant

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

ORPHA:369837Malform.
Autosomal recessive

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Disease
Not applicable, Unknown

Intellectual disability-short stature-hypertelorism syndrome

ORPHA:3074Malform.

Intellectual disability-small hands and feet-drug-resistant epilepsy syndrome

ORPHA:708203Malform.
X-linked dominant

Intellectual disability-spasticity-ectrodactyly syndrome

ORPHA:1891Malform.

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

ORPHA:662829Disease
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Disease
Autosomal recessive

Interatrial communication

ORPHA:1478Morph.
Autosomal dominant, Not applicable

Interdigitating dendritic cell sarcoma

ORPHA:86900Disease

Intermediate DEND syndrome

ORPHA:99989Disease
Autosomal dominant, Autosomal recessive, Not applicable

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Disease
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Disease
Autosomal dominant