ADNP-AS1 gene related symptoms and diseases

All the information presented here about the ADNP-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to ADNP-AS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Febrile seizures Very Common - Between 80% and 100% cases
Truncal ataxia Very Common - Between 80% and 100% cases
Cerebral visual impairment Very Common - Between 80% and 100% cases
Decreased liver function Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ADNP-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Telangiectasia
  • Postnatal microcephaly
  • Progressive neurologic deterioration
  • Intention tremor
  • Nail dysplasia
  • Venous thrombosis
  • Dental malocclusion
  • Delayed myelination

And 70 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ADNP-AS1 gene

Here you will find a list of rare diseases related to the ADNP-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


DPM1-CDG


Alternate names

DPM1-CDG Is also known as cdg1e, cdg syndrome type ie, congenital disorder of glycosylation type 1e, carbohydrate deficient glycoprotein syndrome type ie, cdg-ie, congenital disorder of glycosylation type ie, cdgie, dol-p-mannosyltransferase deficiency, cdg ie

Description

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.

Most common symptoms of DPM1-CDG

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


More info about DPM1-CDG

SOURCES: MESH ORPHANET OMIM




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