Digital Health Assistant & Symptom Checker | Symptoma
0%
Restart

Are you sure you want to clear all symptoms and restart the conversation?

About COVID-19 Jobs Press Scholarship Terms Privacy Imprint Medical Device Language
Languages
Suggested Languages
English en
Other languages 0
2.1
AP4 Deficiency Syndrome
Severe Intellectual Disability with Progressive Spastic Paraplegia

Presentation

Dysmorphic features (figure 2, Aa, Ba, Ca) were also present. The 3 patients needed assistance to most common daily living activities. [ncbi.nlm.nih.gov]

Face, Head & Neck

  • Broad Nasal Bridge

    (A.a, B.a, and C.a) Photographs showing dysmorphism, with bulbous nose, broad nasal bridge, coarse features, and wide-open mouth. [ncbi.nlm.nih.gov]

Psychiatrical

  • Anger

    They thank the Region Pays de la Loire, Angers Loire-Métropole, University of Angers, and University Hospital of Angers for their support to the PREMMI project. They are indebted to Dr. Lagavulin for helpful discussions. [ncbi.nlm.nih.gov]

  • Psychomotor Retardation

    Psychomotor retardation with spasticity of the 4 limbs was noticed early in life. Clinical examination from the first year showed spastic tetraplegia, with pyramidal tract signs and equinovarus. [ncbi.nlm.nih.gov]

Neurologic

  • Pyramidal Tract Signs

    Clinical examination from the first year showed spastic tetraplegia, with pyramidal tract signs and equinovarus. [ncbi.nlm.nih.gov]

Pathophysiology

Neurodegeneration with brain iron accumulation: genetic diversity and pathophysiological mechanisms. Annu Rev Genomics Hum Genet 2015;16:257–279. [PubMed] [Google Scholar] 13. Langouët M, Siquier-Pernet K, Sanquer S, et al.. [ncbi.nlm.nih.gov]

Languages
Suggested Languages
English en
Other languages 0
2.1
About Symptoma.com COVID-19 Jobs Press Scholarship
Contact Terms Privacy Imprint Medical Device