Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

MONDO:0032943

Also known as:nabais sa-de vries syndrome, type 2NEDMACE

Overview

GeneticsAutosomal dominant · SPOP (chr 17)

OnsetANTENATAL, NEONATAL, 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: Motor delay, Intellectual disability, and Delayed speech and language development; and very common findings: Hypertelorism. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Dystonia, Seizure, Intellectual disability

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

SPOP function has not been fully characterized.

Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies is caused by 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 confirmatory for diagnosis.

Biomarker and diagnostic research for neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature, 15 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 relative macrocephaly and with or without cardiac or endocrine anomalies.

316 publications have been identified in PubMed for neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies. Research spans Review / Meta-Analysis (46%), Basic Science / Preclinical (29%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Research summaries	144

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 4:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618829

Orphanet

European rare disease database

Orphanet:662175

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?

← Back to All Diseases

Kisho

neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies

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 relative macrocephaly and with or without cardiac or endocrine anomalies

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