chromosome 19p13.13 deletion syndrome
ORPHA: 357001
Overview
Human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with chromosome 19p13.13 deletion syndrome, sourced from HPO and Orphanet clinical annotations.
MacrocephalyAbnormal facial shapeProminent foreheadLong faceAnteverted naresStrabismusDownslanted palpebral fissuresPectus excavatumIntellectual disabilityGlobal developmental delayAttention deficit hyperactivity disorderFunctional abnormality of the gastrointestinal tractMacroglossiaNarrow mouthHigh palateThin upper lip vermilionBrachycephalyDolichocephalyMalar flatteningEpicanthusHypertelorismSmooth philtrumLow-set earsMacrotiaDeeply set eyeLong eyelashesOptic nerve hypoplasiaNystagmusOptic atrophyCafe-au-lait spotSeizurePes planusSandal gapDeep plantar creasesVomitingDiarrheaAbdominal painShort noseSyringomyeliaDepressed nasal bridgeChiari type I malformationHypoplasia of the frontal lobesCorpus callosum atrophyIncreased nuchal translucencyFeeding difficultiesClinodactylyLong fingers
Classification & Codes
Orphanet Code
ORPHA:357001chromosome 19p13.13 deletion syndrome
| Orphanet | ORPHA:357001 |
| Treatments | 0 drug(s) |
| Symptoms on record | 47 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO