Phenotype #0000307199

Individual ID	00415405
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	40w-birth spontaneaous vaginal, length 53cm (0.22), weight 4250g (1.42), OFC 38cm; gestational hypertension; delivery complicated because of large head circumference/ dolicocephaly. Icterus neonatorum; height 179.5cm (0.45), weight 82.4Kg (1), OFC 60cm (1.96), BMI 25.6 (1.18); mild intellectual disability (IQ~65); 16m15d-walk; independent self-care; normal speech; started at regular primary school, switched to special education, now graphic designer at special workplace for individuals with disabilities; prominent autistic features, 23y-diagnosis autism spectrum disorder; anxiety disorder, otherwise happy, friendly, social; no sleep disturbances; no seizures; both hypertonia and hypotonia reported in infancy and childhood; balance problems, clumsiness, often headache (migraine-like); recurrent otitis externa, no hearing loss; mild hypermetropia, wears glasses; no pulmonary abnormalities; no cardiovascular abnormalities; constipation in history. had appendicitis, no other abnormalities; no genitourinary abnormalities; craniosynostosis, 6m-corrective surgery, severe artrosis in knee ( always wears brace) and in wrist, jaw joint problems; Congenital bilaterial inguinal hernia
Inheritance	Isolated (sporadic)
Age/Examination	26y (26 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-08-13 16:30:49 +02:00 (CEST)
Date last edited	N/A