hypotonia, infantile, with psychomotor retardation and characteristic facies 1
ORPHA: 371364
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 hypotonia, infantile, with psychomotor retardation and characteristic facies 1, sourced from HPO and Orphanet clinical annotations.
StrabismusEsotropiaDelayed speech and language developmentGlobal developmental delayMotor delayAbsent speechFloppy infantTapered distal phalanges of fingerSevere intellectual disabilityThin upper lip vermilionMicrocephalySmooth philtrumShort philtrumTriangular faceMicrognathiaPosteriorly rotated earsProminent nasal bridgeWide nasal bridgeAnteverted naresDownslanted palpebral fissuresArachnodactylySeizureHypotoniaNeonatal hypotoniaPlagiocephalySevere failure to thriveTalipes equinovarusAbnormal facial shapeFrontal bossingConstipationEEG abnormalityScoliosisShort statureCachexiaEnlarged narisTented upper lip vermilionFeeding difficultiesDyskinesiaHyperesthesiaSmall handShort neckNystagmusIntrauterine growth retardationHypoplasia of the corpus callosumSleep disturbanceSpastic tetraplegiaObstructive sleep apneaElbow flexion contractureHip contractureEMG: myopathic abnormalitiesKnee flexion contractureAxial hypotoniaNasogastric tube feeding in infancyConspicuously happy dispositionSelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:371364hypotonia, infantile, with psychomotor retardation and characteristic facies 1
| Orphanet | ORPHA:371364 |
| Treatments | 0 drug(s) |
| Symptoms on record | 55 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO