Phenotype #0000342139

Individual ID	00453475
Associated disease	-
Phenotype details	The patient is a developmentally delayed male aged 6 years and 4 months. He is the second child born at full term with a birth weight of 3.2 kg (50th percentile). There is no history of birth asphyxia. While gross motor development appears normal, his speech remains delayed - he was able to say "dad" and "mom" at the age of two, and he still spoke mostly simple words and showed limited understanding of instructions at 6 years old. Physical examination revealed a height of 115 cm (15th-50th percentile), a weight of 21 kg (50th percentile), and a head circumference of 51.8 cm (50th percentile). Magnetic resonance imaging (MRI) of the brain showed no apparent abnormalities. Intelligence testing using the WISC-R indicated a language score of 56, an operational score of 55, and a total IQ of 48.
Diagnosis/Initial	mental retardation
Inheritance	Isolated (sporadic)
Diagnosis/Definite	Intellectual developmental disorder, autosomal dominant 1
Age/Examination	02y (2 years)
Age/Diagnosis	07y
Age/Onset	-
Phenotype/Onset	-
Birth_Details	-
Protein	luoxiaomei
Owner name	Xiaomei Luo
Database submission license
Created by	Xiaomei Luo
Date created	2024-09-05 11:20:29 +02:00 (CEST)
Date last edited	2024-09-05 19:32:02 +02:00 (CEST)

Global Variome shared LOVD