MEDLIB
База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

ORPHA:684226Порок
Autosomal dominant

Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome

ORPHA:694956Порок
Autosomal dominant

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

ORPHA:457279Порок
Autosomal dominant

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

ORPHA:457365Порок
Unknown

Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Заболевание

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

ORPHA:697760Порок
Autosomal dominant

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

ORPHA:697764Этиол. подт.
Autosomal dominant

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Заболевание
Autosomal recessive

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

ORPHA:397973Заболевание
Autosomal recessive

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

ORPHA:694937Порок
Autosomal recessive

Intellectual disability-polydactyly-uncombable hair syndrome

ORPHA:3082Порок

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Заболевание
Autosomal dominant

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

ORPHA:369837Порок
Autosomal recessive

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Заболевание
Not applicable, Unknown

Intellectual disability-short stature-hypertelorism syndrome

ORPHA:3074Порок

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

ORPHA:708203Порок
X-linked dominant

Intellectual disability-spasticity-ectrodactyly syndrome

ORPHA:1891Порок

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

ORPHA:662829Заболевание
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Заболевание
Autosomal recessive

Interatrial communication

ORPHA:1478Морф.
Autosomal dominant, Not applicable

Interdigitating dendritic cell sarcoma

ORPHA:86900Заболевание

Intermediate DEND syndrome

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

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Заболевание
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Заболевание
Autosomal dominant