facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
ORPHA: 466950
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 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, sourced from HPO and Orphanet clinical annotations.
Atypical behaviorIntellectual disabilityMild intellectual disabilityGlobal developmental delayMotor delayAbnormal facial shapeSquare faceStrabismusAbnormality of visionAnxietyDelayed speech and language developmentNeonatal hypotoniaConstipationAbnormality of the respiratory systemSleep disturbanceAttention deficit hyperactivity disorderPelvic kidneyWide mouthThin upper lip vermilionEpicanthusHypertelorismBroad foreheadPosteriorly rotated earsHearing impairmentProminent antihelixBulbous noseWide nasal bridgeBroad nasal tipDeeply set eyeAbnormality of refractionVisual lossThick eyebrowLong palpebral fissureSynophrysAggressive behaviorAutistic behaviorSingle transverse palmar creaseHirsutismBrachydactylyProminent fingertip padsDysarthriaAbsent speechObesityPes planusTruncal obesityDysphagiaGastroesophageal refluxBilateral tonic-clonic seizureAsthmaVentriculomegalyRecurrent respiratory infectionsAbnormal pattern of respirationInverted nipplesShort palmDepressed nasal bridgeAbnormal nostril morphologyPes valgusBranchial anomalyTypical absence seizureSimple febrile seizureProminent foreheadBroad chinBorderline personality disorderWidened subarachnoid spaceNasogastric tube feedingDilatation of renal calicesArachnoid cystSelf-injurious behavior
Classification & Codes
Orphanet Code
ORPHA:466950facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
| Orphanet | ORPHA:466950 |
| Treatments | 0 drug(s) |
| Symptoms on record | 68 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO