Phenotype #0000230293

Individual ID	00303209
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	see paper; ..., severe global developmental delay, severe intellectual disability; moderate muscular hypotonia; grasp, rolling over, sitting unsupported, standing with support, walking few steps with support; no speech; no seizures; EEG abnormal; reduced pain sensation; self-mutilation; crying without tears; ECG-reduced heart rate variability; reduced sweating; no fever without focus/temperature dysregulation; repeated neonatal episodes of apnea and/or desaturations; no thyroid dysfunction; neonatal history hypoglycemia; neonatal history hypoglycemia; (pan)hypopituitarism; low hemoglobin; no thrombocytopenia; exocrine pancreatic insufficiency; obstipation; no diarrhea; malabsorption, hyperintense pancreas in ultrasound; contractures of 3rd finger on left and 4th finger on right hand, cutaneous syndactyly of 2nd and 3rd toes, pes calcaneus, scoliosis, reduced bone age; no genital abnormalities; no hearing loss; esotropia; short palpebral fissure, epicanthus, depressed nasal bridge, hypoplastic alae, small mouth, high palate; increased intra-and extra-axial cerebrospinal fluid spaces; no delayed myelination; no pituitary anomalies
Inheritance	Familial, autosomal recessive
Age/Examination	12y (12 years)
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	2020-06-08 15:20:20 +02:00 (CEST)
Date last edited	2020-08-23 10:52:26 +02:00 (CEST)