autosomal dominant non-syndromic intellectual disability 21
ORPHA: 363611
Overview
autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of CTCF on chromosome 16q22.1
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 autosomal dominant non-syndromic intellectual disability 21, sourced from HPO and Orphanet clinical annotations.
CryptorchidismAbnormality of the dentitionThin upper lip vermilionThin vermilion borderMicrocephalyStrabismusLong eyelashesHypermetropiaThick eyebrowMacrodontia of permanent maxillary central incisorAtypical behaviorAutistic behaviorDelayed speech and language developmentSingle transverse palmar creaseIntellectual disabilityHypotoniaFailure to thriveSmall for gestational ageAtrial septal defectPatent ductus arteriosusSandal gapAbnormal facial shapeVentriculomegalyRecurrent infectionsClinodactyly of the 5th fingerBroad hallux phalanxFeeding difficultiesNeurodevelopmental delayInguinal herniaHypoplastic labia majoraNarrow mouthCleft palateEpicanthusHypertelorismShort philtrumNarrow foreheadLong philtrumHigh foreheadPosteriorly rotated earsCupped earBroad nasal tipAnteverted naresMicrocorneaDeeply set eyeSynophrysMicrodontiaOsteopeniaSacral dimpleHypertrichosisProminent fingertip padsCraniosynostosisMitral regurgitationCoarctation of aortaPhimosisShort columellaGastroesophageal refluxPulmonary arterial hypertensionSleep disturbanceHighly arched eyebrowRecurrent lower respiratory tract infectionsShort nose2-3 toe syndactylyChronic lung diseaseProlonged neonatal jaundiceJoint contracture of the 5th fingerNasogastric tube feeding in infancyMidface retrusionFetal distressAbnormal temper tantrumsPulmonary hemorrhageSepsis
Classification & Codes
Orphanet Code
ORPHA:363611autosomal dominant non-syndromic intellectual disability 21
| Orphanet | ORPHA:363611 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO