Phenotype #0000359559

Individual ID 00474766
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite FGLDS1
Phenotype details see paper; ..., weight 10th, height 10-25th, OFC <3th; brachymesophalangy particularly 2nd/5th finger; short palpebral fissures; mild intellectual disability, learning disability; no gastrointestinal atresia; no cardiac abnormality; no renal abnormalities; bilateral hearing loss
Inheritance Isolated (sporadic)
Age/Examination 8y (8 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-03-25 14:36:19 +01:00 (CET)
Date last edited N/A

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