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neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism

MONDO:0030999

Also known as:NEDCAFD

Overview

GeneticsAutosomal recessive · TTC5 (chr 14)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Intellectual disability, Brain shrinkage (cerebral atrophy), and Delayed speech and language development; and very common findings: Delayed ability to sit, Lateral ventricle dilatation, Delayed ability to stand, and Corpus callosum atrophy and others. 38 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	8	Seizure, Aggressive behavior, Intellectual disability

Genetic Landscape

TTC5 function has not been fully characterized.

Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism is associated with mutations in the TTC5 gene on chromosome 14.

Diagnosis

Genetic testing for TTC5 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 5 very common features, 8 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism.

3 publications have been identified in PubMed for neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Abdel-Ghafar SF (2026). [PMID: 41025723](https://pubmed.ncbi.nlm.nih.gov/41025723/). *Clinical genetics*. [Case Report / Case Series]
Falabella M (2025). [PMID: 39279645](https://pubmed.ncbi.nlm.nih.gov/39279645/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Rafat K (2025). [PMID: 40579404](https://pubmed.ncbi.nlm.nih.gov/40579404/). *Scientific reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:21 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619244

GARD

Genetic and Rare Diseases Info Center

GARD:18542

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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