Phenotype #0000081301

Individual ID 00103209
Associated disease TBRS
Phenotype details overgrowth syndrome with intellectual disability; birth 42w, weight 3980 g, length of 52.3 cm, OFC 36.2 cm; 5y height was 121.2 cm, weight 24.3kg, OFC 56.5cm; developmental delay since early infancy (HP:0001263), delayed motor development (HP:0001270), early eruption of permanent teeth (HP:0006337), heavy horizontal eyebrows (HP:0000574, HP:0011228), narrow down-slanting palpebral fissures Narrow palpebral fissures (HP:0000494, HP:0000581), epicanthal folds (HP:0000286), low set ears (HP:0000369), high palate (HP:0000218)
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset 1d
Protein -
Owner name Lynn Boekhoudt
Database submission license No license selected
Created by Johan den Dunnen
Date created 2017-04-11 09:20:38 +02:00 (CEST)
Date last edited 2017-04-11 09:21:11 +02:00 (CEST)

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