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  2. Genes
  3. ABHD14A-ACY1

ABHD14A-ACY1 gene related symptoms and diseases

All the information presented here about the ABHD14A-ACY1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to ABHD14A-ACY1 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Absence seizures Very Common - Between 80% and 100% cases
Intellectual disability, moderate Very Common - Between 80% and 100% cases
Apnea Very Common - Between 80% and 100% cases
Wide nose Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ABHD14A-ACY1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Inability to walk
  • Generalized muscle weakness
  • Febrile seizures
  • Aplasia/Hypoplasia of the corpus callosum
  • Abnormality of the nervous system
  • Hemiplegia
  • Opisthotonus
  • Limb hypertonia

And 23 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to ABHD14A-ACY1 gene

Here you will find a list of rare diseases related to the ABHD14A-ACY1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

Alternate names

NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY Is also known as n-acyl-l-amino acid amidohydrolase deficiency, acy1d

Description

Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.

Most common symptoms of NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


More info about NEUROLOGICAL CONDITIONS ASSOCIATED WITH AMINOACYLASE 1 DEFICIENCY

SOURCES: OMIM ORPHANET MESH



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