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Yoon-Bellen neurodevelopmental syndrome

Summary

Synonym

YOBELN

Definition

A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23.

Super Class

autosomal recessive disease syndrome

External Links

Disease Ontology

DOID:0070468

Mondo Disease Ontology

MONDO:0859221

OMIM

619701

Related Genes

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
4967	OGDH	oxoglutarate dehydrogenase	Alliance of Genome Resources
55753	OGDHL	oxoglutarate dehydrogenase L	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
18293	Ogdh	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
360975	Ogdh	oxoglutarate dehydrogenase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
447370	ogdhl.L	oxoglutarate dehydrogenase like L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
177235	ogdh-1	2-oxoglutarate dehydrogenase, mitochondrial;Transketolase-like pyrimidine-binding domain-containing protein	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **11 - 20** of 31 in total

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HPO ID	HPO Term
HP:0001251	Ataxia
HP:0011344	Severe global developmental delay
HP:0001488	Bilateral ptosis
HP:0000494	Downslanted palpebral fissures
HP:0002521	Hypsarrhythmia
HP:0000007	Autosomal recessive inheritance
HP:0002059	Cerebral atrophy
HP:0003577	Congenital onset
HP:0000648	Optic atrophy
HP:0011170	Generalized myoclonic-atonic seizure