Phenotype #0000254905

Individual ID 00359632
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details length 149 cm 15y (-2.5 SD), OFC 50 cm 13y (-2.8 SD); no facial dysmorphisms; 5y-walk, normal ambulation; 2y-first words, 15y-normal speech; 15y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; rare febrile seizures, generalized seizure (fever induced); EEG-slightly abnormal
Inheritance Familial, autosomal recessive
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset 4y
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 2021-04-03 15:08:35 +02:00 (CEST)
Date last edited N/A

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