Phenotype #0000356831

Individual ID 00472022
Associated disease ID
Diagnosis/Initial intelleellectual disabilityctual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., pregnancy breech presentation; birth weight 3010g; mild intellectual disability; motor delay; 19m-walk; language delay, speech therapy; height 0SD, OFC +0.3SD; attention deficit hyperactivity disorder; no epilepsy; MRI brain normal; no neonatal feeding difficulties; hyperopia; no hearing loss; no joint hypermobility; no scoliosis; small 5th fingers, sandal gap; hypodontia; premature pubarche; sleeping difficulties; no long ears; no upslanted palpebral fissures; downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; broad nasal bridge, high palate
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-01-05 20:42:40 +01:00 (CET)
Date last edited N/A

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