Sporadic fetal brain disruption sequence

Summary

Sporadic fetal brain disruption sequence (MONDO:0015660) is a disease. A subtype of central nervous system disorder — 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): 10

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		20	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

10 HPO clinical features (Orphanet curated; top 10 by frequency):

HPO ID	Term	Frequency
HP:0000252	Microcephaly	Very frequent (80-99%)
HP:0000269	Prominent occiput	Very frequent (80-99%)
HP:0001257	Spasticity	Very frequent (80-99%)
HP:0001357	Plagiocephaly	Very frequent (80-99%)
HP:0002120	Cerebral cortical atrophy	Very frequent (80-99%)
HP:0006887	Intellectual disability, progressive	Very frequent (80-99%)
HP:0010864	Intellectual disability, severe	Very frequent (80-99%)
HP:0011344	Severe global developmental delay	Very frequent (80-99%)
HP:0000834	Abnormality of the adrenal glands	Occasional (5-29%)
HP:0010515	Aplasia/Hypoplasia of the thymus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	sporadic fetal brain disruption sequence
Mondo ID	MONDO:0015660
Orphanet	1665
SNOMED CT	763717004
UMLS	C4706553
MedGen	1636968
GARD	0018734
Is cancer (heuristic)	no

Disease family

This is a subtype of central nervous system disorder. 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 › nervous system disorder › central nervous system disorder › sporadic fetal brain disruption sequence

Related subtypes (18): autoimmune disorder of central nervous system, autonomic nervous system disorder, optic nerve disorder, spinal cord disorder, high pressure neurological syndrome, central nervous system vasculitis, encephalomyelitis, neurodegenerative disease, brain disorder, central nervous system neoplasm, palsy, trigeminal neuralgia, infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, congenital narrowing of cervical spinal canal, central nervous system infectious disorder, cerebrospinal fluid leak, SPAST-related motor disorder, tinnitus

Subtypes (1): NDE1-related microhydranencephaly

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.