Skip to main content

RareConnect.ioRare Intelligence

Explore Data Discover Patient Groups News Partner

Sign In Sign Up

Explore Data Patient Groups News Partner

RareConnect.ioRare Intelligence

Combining the speed of AI with the wisdom of the community to build the world's most accurate disease registry.

Explore

Disease Directory
Patient Groups
News
FAQ
MONDO Ontology ↗

Get Involved

Partner with Us
Register Your PAG
Community
Pricing

Legal

Privacy Policy
Terms of Service
Accessibility
Contact Us

© 2025 RareConnect.io. Powered by MONDO Ontology

intellectual disability, autosomal dominant 48 | RareConnect | RareConnect.io

/congenital nervous system disorder

/multiple congenital anomalies/dysmorphic syndrome-intellectual disability

/autosomal dominant syndromic intellectual disability

/intellectual disability, autosomal dominant 48

intellectual disability, autosomal dominant 48

Rare Disease

MONDO:0030913

Also Known As

intellectual disability, autosomal dominant 48MRD48autosomal dominant intellectual disability 48autosomal dominant mental retardation 48mental retardation, autosomal dominant 48microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:617751 ↗

Orphanet

Orphanet:500159 ↗

GARD

Related Diseases

polymicrogyria

MONDO:0000087

Neu-Laxova syndrome

MONDO:0000179

congenital myasthenic syndrome with tubular aggregates

MONDO:0000182

prenatal-onset spinal muscular atrophy with congenital bone fractures

MONDO:0000209

anencephaly

MONDO:0000819

cerebral cavernous malformation

MONDO:0000820

← Back to All Diseases