Phenotype #0000321956

Individual ID 00431362
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details birth weight -6, length -6, OFC -5; motor delay (HP:0001270); not walking; language delay (HP:0000750), babbling; no behavioral problems; general hypotonia; broad depressed nasal root, synophrys, epicanthus, tented mouth; transverse palmar crease; MRI brain normal
Age/Examination 2y (2 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Fernanda Soledad Jalil
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-14 11:22:32 +02:00 (CEST)
Date last edited N/A

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