Phenotype #0000359560

Individual ID 00474767
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite FGLDS1;DEE17
Phenotype details see paper; ..., weight 10-25th, height 10th, OFC <3th; brachymesophalangy, clynodactyly, hypoplasia 5th finger/toe, hallux valgus; no short palpebral fissures; severe intellectual disability; duodenal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss; epilepsy
Inheritance Familial, autosomal dominant
Age/Examination 15y (15 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 2026-03-25 14:54:21 +01:00 (CET)

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