RXYLT1-AS1 gene related symptoms and diseases

All the information presented here about the RXYLT1-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RXYLT1-AS1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Pachygyria Very Common - Between 80% and 100% cases
Cerebellar dysplasia Very Common - Between 80% and 100% cases
Retinal dysplasia Very Common - Between 80% and 100% cases
Atrophy/Degeneration affecting the brainstem Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RXYLT1-AS1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Facial cleft
  • Gonadal dysgenesis
  • Occipital encephalocele
  • Large for gestational age
  • Congenital muscular dystrophy
  • Lissencephaly
  • Encephalocele
  • Microcephaly

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RXYLT1-AS1 gene

Here you will find a list of rare diseases related to the RXYLT1-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10


Alternate names

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10 Is also known as walker-warburg syndrome or muscle-eye-brain disease, tmem5-related

Description

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

Most common symptoms of MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

  • Intellectual disability
  • Microcephaly
  • Cataract
  • Macrocephaly
  • Ventriculomegaly


More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

SOURCES: OMIM




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