Phenotype #0000233339

Individual ID	00307916
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; ..., perinatal respiratory distress, hypotonia; severe global developmental delay; moderate muscular hypotonia; no seizures; EEG abnormal; ECG-reduced heart rate variability; no fever without focus/temperature dysregulation, neonatal repeated episodes of apnea and/or desaturations; no thyroid dysfunction, no history of hypoglycemia; low hemoglobin, no thrombocytopenia; no obstipation, no diarrhea; no skeletal features; no hearing loss; no eye abnormalities; broad forehead, micrognathia,, prominent ear helix; no increased intra- and extra-axial cerebrospinal fluid spaces, no delayed myelination, no pituitary anomalies; undescended testis
Inheritance	Familial, autosomal recessive
Age/Examination	00y01m (1 month)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-23 08:54:46 +02:00 (CEST)
Date last edited	2020-08-23 10:06:58 +02:00 (CEST)

Global Variome shared LOVD