blepharophimosis - intellectual disability syndrome, Ohdo type

Summary

blepharophimosis - intellectual disability syndrome, Ohdo type (MONDO:0009583) is a disease and 1 clinical trial. A subtype of Ohdo syndrome and variants — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 26
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		30	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0000028	Cryptorchidism	Very frequent (80-99%)
HP:0000046	Small scrotum	Very frequent (80-99%)
HP:0000093	Proteinuria	Very frequent (80-99%)
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000356	Abnormality of the outer ear	Very frequent (80-99%)
HP:0000365	Hearing impairment	Very frequent (80-99%)
HP:0000403	Recurrent otitis media	Very frequent (80-99%)
HP:0000508	Ptosis	Very frequent (80-99%)
HP:0000568	Microphthalmia	Very frequent (80-99%)
HP:0000581	Blepharophimosis	Very frequent (80-99%)
HP:0000646	Amblyopia	Very frequent (80-99%)
HP:0000685	Hypoplasia of teeth	Very frequent (80-99%)
HP:0000687	Widely spaced teeth	Very frequent (80-99%)
HP:0000691	Microdontia	Very frequent (80-99%)
HP:0000750	Delayed speech and language development	Very frequent (80-99%)
HP:0001018	Abnormal palmar dermatoglyphics	Very frequent (80-99%)
HP:0001256	Intellectual disability, mild	Very frequent (80-99%)
HP:0001270	Motor delay	Very frequent (80-99%)
HP:0001511	Intrauterine growth retardation	Very frequent (80-99%)
HP:0008551	Microtia	Very frequent (80-99%)
HP:0008897	Postnatal growth retardation	Very frequent (80-99%)
HP:0030148	Heart murmur	Very frequent (80-99%)
HP:0000175	Cleft palate	Frequent (30-79%)
HP:0001631	Atrial septal defect	Frequent (30-79%)
HP:0012619	Multiple bladder diverticula	Frequent (30-79%)
HP:0012768	Neonatal asphyxia	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	blepharophimosis - intellectual disability syndrome, Ohdo type
Mondo ID	MONDO:0009583
OMIM	249620
Orphanet	2728
SNOMED CT	412787009
UMLS	C0796094
MedGen	162905
GARD	0003348
Is cancer (heuristic)	no

Also known as: blepharophimosis syndrome, Ohdo type · BMRS, Ohdo type · mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth · Ohdo syndrome · Ohdo-Madokoro-Sonoda syndrome

Disease family

Classification path: disease › human disease › disease by developmental or physiological process › disorder of development or morphogenesis › developmental defect during embryogenesis › multiple congenital anomalies/dysmorphic syndrome › multiple congenital anomalies/dysmorphic syndrome-intellectual disability › blepharophimosis - intellectual disability syndrome › Ohdo syndrome and variants › blepharophimosis - intellectual disability syndrome, Ohdo type

Related subtypes (2): blepharophimosis - intellectual disability syndrome, MKB type, blepharophimosis - intellectual disability syndrome, SBBYS type

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04463316	Not specified	RECRUITING	GROWing Up With Rare GENEtic Syndromes