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neurodevelopmental disorder with microcephaly and dysmorphic facies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with microcephaly and dysmorphic facies

MONDO:0032942

Also known as:nabais sa-de vries syndrome, type 1NEDMIDF

Overview

GeneticsAutosomal dominant · SPOP (chr 17)

OnsetNEONATAL, CONGENITAL

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: Hearing loss (hearing impairment), Motor delay, Smooth philtrum, and Intellectual disability and others; and common findings: Narrow forehead, Epicanthus, Short nose, and Bulbous nose and others. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Intellectual disability, Delayed speech and language development, Global developmental delay

Genetic Landscape

SPOP function has not been fully characterized.

Neurodevelopmental disorder with microcephaly and dysmorphic facies has been associated with mutations in the SPOP gene on chromosome 17.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for SPOP is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with microcephaly and dysmorphic facies has been reported in the published literature.

Prognosis

Phenotype severity distribution: 10 always present features, 26 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 microcephaly and dysmorphic facies.

46 publications have been identified in PubMed for neurodevelopmental disorder with microcephaly and dysmorphic facies. Research spans Case Report / Case Series (63%), Basic Science / Preclinical (13%), and Review / Meta-Analysis (11%).

Research Type	Count	% of Total
Patient case studies	29	63%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618828

Orphanet

European rare disease database

Orphanet:662179

Questions for Your Care Team

→Should I pursue genetic testing for SPOP, and what would the results mean for my family?
→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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Kisho

neurodevelopmental disorder with microcephaly and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

neurodevelopmental disorder with microcephaly and dysmorphic facies

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications