Phenotype #0000034717

Individual ID 00047292
Associated disease ID
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Unknown
Phenotype details no speech, muscular hypotonia, walk(support)-3y, friendly behaviour, no orofacial hypotonia, no long face, epicanthic folds, upslanting palpebral fissures, short philtrum, no open-mouth, tented upper lip, everted lower lip, high arched palate, pointed chin, low set ears, no strabismus, no joint hypermobility, neanatal feeding difficulties, umbilical hernia, no decreased pain sensation, recurrent upper air tract infections; brain-MRI slightly delayed myelination; birth 39w; weight 3,580/0.2;; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Davor Lessel
Database submission license No license selected
Created by Johan den Dunnen
Date created 2015-08-28 16:04:22 +02:00 (CEST)
Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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