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Article

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2014

Khan Arif O, Shaheen Ranad, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Congenital cranial dysinnervation disorders (CCDDs) are phenotypes of congenital incomitant strabismus and/or ptosis related to orbital dysinnervation. CCDDs have been associated with dominant or recessive monogenic mutations in at least 7 different genes (CHN1, SALL4, HOXA1, KIF21A, PHOX2A, TUBB3, ROBO3) that cause phenotypes such as Duane retraction syndrome, congenital fibrosis of the extraocular...

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Source

Identifiers

PMID: 25173900
DOI: 10.1016/j.jaapos.2014.03.005

Genes

ECEL1
CHN1
HOXA1
ROBO3
SALL4
TUBB3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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