| AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome (disorder) | | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | | Xia Gibbs syndrome
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
| | A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. | | syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde verstandelijke beperking, obstructieve slaapapneu en lichte dysmorfie | | syndroom van Xia-Gibbs
syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde verstandelijke handicap, obstructieve slaapapneu en lichte dysmorfie
syndroom van AHDC1-gerelateerde mentale retardatie, obstructieve slaapapneu en lichte dysmorfie
syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde mentale retardatie, obstructieve slaapapneu en lichte dysmorfie
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| | Id | 774068004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| ICD-10 complex map reference set | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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