Phenotype #0000304332

Individual ID	00412327
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	see paper; ..., birth 38w+1, weight 3492 g (0.36 SD), length 56 cm (2.08 SD), OFC 34.5 cm (−0.33 SD); length 101 cm (−1.66 SD), weight 13.8 kg (−2.50 SD), OFC 48 cm (−2.33 SD); motor delay (HP:0001270); speech delay (HP:0000750); fine motor impairment (HP:0007010); mild intellectul disability (HP:0001256); no hyperactivity (-HP:0000752); short attention span (HP:0000736); no sleep disturbance (-HP:0002360); postnatal microcephaly (HP:0005484); smooth philtrum (HP:0000319); thin upper lip vermilion (HP:0000219); no strabismus (-HP:0000486); no 2–3 toe cutaneous syndactyly (-HP:0005709); no high palate (-HP:0000218); nausea and vomiting (HP:0002017); gastro-oesophageal reflux (HP:0002020); failure to thrive (HP:0001508)
Inheritance	Familial, autosomal recessive
Age/Examination	4y5m (4 years, 5 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