Disorder of sex development-intellectual disability syndrome

Summary

Disorder of sex development-intellectual disability syndrome (MONDO:0010824) is a disease. A subtype of 46 XY differences of sex development — 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): 23

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		3	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

23 HPO clinical features (Orphanet curated; top 23 by frequency):

HPO ID	Term	Frequency
HP:0000046	Small scrotum	Very frequent (80-99%)
HP:0000135	Hypogonadism	Very frequent (80-99%)
HP:0000233	Thin vermilion border	Very frequent (80-99%)
HP:0000271	Abnormality of the face	Very frequent (80-99%)
HP:0000322	Short philtrum	Very frequent (80-99%)
HP:0000470	Short neck	Very frequent (80-99%)
HP:0000490	Deeply set eye	Very frequent (80-99%)
HP:0000664	Synophrys	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0002162	Low posterior hairline	Very frequent (80-99%)
HP:0002714	Downturned corners of mouth	Very frequent (80-99%)
HP:0002808	Kyphosis	Very frequent (80-99%)
HP:0002857	Genu valgum	Very frequent (80-99%)
HP:0003196	Short nose	Very frequent (80-99%)
HP:0003298	Spina bifida occulta	Very frequent (80-99%)
HP:0004349	Reduced bone mineral density	Very frequent (80-99%)
HP:0006610	Wide intermamillary distance	Very frequent (80-99%)
HP:0008551	Microtia	Very frequent (80-99%)
HP:0008625	Severe sensorineural hearing impairment	Very frequent (80-99%)
HP:0008736	Hypoplasia of penis	Very frequent (80-99%)
HP:0010306	Short thorax	Very frequent (80-99%)
HP:0010720	Abnormal hair pattern	Very frequent (80-99%)
HP:0000358	Posteriorly rotated ears	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	disorder of sex development-intellectual disability syndrome
Mondo ID	MONDO:0010824
MeSH	C535693
OMIM	600122
Orphanet	2983
SNOMED CT	719450007
UMLS	C1838611
MedGen	325469
GARD	0004550
Is cancer (heuristic)	no

Also known as: disorder of sex development intellectual disability · Male pseudohermaphroditism intellectual disability syndrome, Verloes type · male pseudohermaphroditism/mental retardation syndrome, Verloes type · pseudohermaphroditism-intellectual disability syndrome · Verloes Gillerot Fryns syndrome · Verloes-Gillerot-Fryns syndrome

Disease family

This is a subtype of 46 XY differences of sex development. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › gonadal disorder › disorder of sexual differentiation › 46 XY differences of sex development › disorder of sex development-intellectual disability syndrome

Related subtypes (23): Frasier syndrome, WAGR syndrome, Denys-Drash syndrome, familial adrenal hypoplasia with absent pituitary luteinizing hormone, PAGOD syndrome, XY type gonadal dysgenesis-associated anomalies syndrome, 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency, X-linked myotubular myopathy-abnormal genitalia syndrome, alpha thalassemia-X-linked intellectual disability syndrome, chondrodysplasia-pseudohermaphroditism syndrome, 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, sudden infant death-dysgenesis of the testes syndrome, Meacham syndrome, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, distal monosomy 9p, dysmorphism-short stature-deafness-disorder of sex development syndrome, 46,XY partial gonadal dysgenesis, testicular agenesis, 46,XY ovotesticular disorder of sex development, penile agenesis, androgen insensitivity syndrome, male pseudohermaphroditism due to defective lh molecule

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: 0.