Syndromic genetic disorder with strabismus

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Syndromic genetic disorder with strabismus

ORPHA:522520Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ADAT3AGKALX4ASCL1ATMCOL25A1DCCFKTNFMR1GBA1GNAO1KIF21ANAGANDPP4HTMPHOX2APHOX2BPIGLRETRMRPROBO3SALL4SLC25A4SLC9A6SOBPSYT1TKFCTUBA1ATUBB2BTUBB3

Orphanet records these genes on 20 more specific entries under this disorder, not on this entry itself:

Alpha-N-acetylgalactosaminidase deficiency type 3Anterior maxillary protrusion-strabismus-intellectual disability syndromeAtaxia-telangiectasiaCartilage-hair hypoplasiaCHIME syndromeChristianson syndromeCoats diseaseCongenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndromeCongenital fibrosis of extraocular musclesCongenital muscular dystrophy, Fukuyama typeFragile X syndromeFrontonasal dysplasia-alopecia-genital anomalies syndromeGaucher disease type 2GNAO1-related developmental delay-seizures-movement disorder spectrumHaddad syndromeHIDEA syndromeHorizontal gaze palsy with progressive scoliosisInfantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeIntellectual disability-strabismus syndromeIVIC syndrome

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

UMLS C5681432

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.

Get started freeSee how Eleplan works →