FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome

disorder

SNOMED 774070008CUI C4751506

Overview

FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Choroidal neovascular membrane

Frequent (30-79%)HP:0011506

Congenital bilateral hip dislocation

Frequent (30-79%)HP:0008780

Cryptorchidism

Frequent (30-79%)HP:0000028

Delayed ability to walk

Frequent (30-79%)HP:0031936

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dystonic movements

Frequent (30-79%)HP:0001332

Fluid-filled cyst in spinal cord

Frequent (30-79%)HP:0003396

Infantile spasms

Frequent (30-79%)HP:0012469

Moderate mental retardation

Frequent (30-79%)HP:0002342

No development of motor milestones

Frequent (30-79%)HP:0001270

Nonprogressive encephalopathy

Frequent (30-79%)HP:0007030

Pigmented macular degeneration

Frequent (30-79%)HP:0000608

Pseudobulbar symptoms

Frequent (30-79%)HP:0002200

Sialorrhea

Frequent (30-79%)HP:0002307

Spastic tetraparesis

Frequent (30-79%)HP:0001285

Speech and language difficulties

Frequent (30-79%)HP:0000750

Syndactyly

Frequent (30-79%)HP:0001159

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Congenital anomaly of central nervous system(parent)

Syndactyly(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 774070008
UMLS CUI: C4751506
Fully Specified Name: Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.