Phenotype #0000304331

Individual ID	00412326
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., length 125 cm (−3.71 SD), weight 26.3 kg (−2.95 SD), OFC 49.5 cm (−3.10 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); mild intellectul disability (HP:0001256); hyperactivity (HP:0000752); short attention span (HP:0000736); sleep disturbance (HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); strabismus (HP:0000486); 2–3 toe cutaneous syndactyly (HP:0005709); no high palate (-HP:0000218); no hypoplasia of the cerebellar vermis (-HP:0006817); no hypoplasia of the corpus callosum (-HP:0002079); no delayed myelination (-HP:0012448); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508)
Inheritance	Familial, autosomal recessive
Age/Examination	12y3m (12 years, 3 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-27 16:46:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD