MCID: FBL015
MIFTS: 5

Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Fbln1-Related Developmental Delay-Central Nervous System...

MalaCards integrated aliases for Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome:

Name: Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA404451
ICD10 via Orphanet 34 Q87.8

Summaries for Fbln1-Related Developmental Delay-Central Nervous System...

MalaCards based summary : Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome An important gene associated with Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome is FBLN1 (Fibulin 1).

Related Diseases for Fbln1-Related Developmental Delay-Central Nervous System...

Symptoms & Phenotypes for Fbln1-Related Developmental Delay-Central Nervous System...

Drugs & Therapeutics for Fbln1-Related Developmental Delay-Central Nervous System...

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Expression for Fbln1-Related Developmental Delay-Central Nervous System...

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Sources for Fbln1-Related Developmental Delay-Central Nervous System...

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