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Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

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-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Ауру

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

ORPHA:697760Мальф.
Autosomal dominant

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

ORPHA:697764Этио. под.
Autosomal dominant

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Ауру
Autosomal recessive

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

ORPHA:397973Ауру
Autosomal recessive

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-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Ауру
Autosomal dominant

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

ORPHA:369837Мальф.
Autosomal recessive

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Ауру
Not applicable, Unknown

Intellectual disability-short stature-hypertelorism syndrome

ORPHA:3074Мальф.

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

ORPHA:708203Мальф.
X-linked dominant

Intellectual disability-spasticity-ectrodactyly syndrome

ORPHA:1891Мальф.

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

ORPHA:662829Ауру
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Ауру
Autosomal recessive

Interatrial communication

ORPHA:1478Морф.
Autosomal dominant, Not applicable

Interdigitating dendritic cell sarcoma

ORPHA:86900Ауру

Intermediate DEND syndrome

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

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Ауру
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Ауру
Autosomal dominant