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fatty acyl-CoA reductase 1 deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Microcephaly, Loss of previously acquired skills (developmental regression), Profound intellectual disability, and Spasticity; and common findings: Brain shrinkage (cerebral atrophy), Delayed CNS myelination, Seizure, and Global developmental delay and others. 32 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Brain shrinkage (cerebral atrophy), Loss of previously acquired skills (developmental regression), Seizure
Head and neck	5	Microcephaly, Coarse facial features, Thin upper lip vermilion
Muscles	4	Brain shrinkage (cerebral atrophy), Low muscle tone (hypotonia), Cerebellar vermis atrophy
Eyes	3	Cataract, Ptosis, Juvenile cataract
Growth and development	2	Growth delay, Short stature

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fatty acyl-CoA reductase 1 deficiency

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Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.

fatty acyl-CoA reductase 1 deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.