Phenotype #0000307196

Individual ID	00415402
Associated disease	NDD
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	42w-birth induced spontaneous vaginal, weight 2770g (-1.93); 40gw-extra cardiac systole; height 123,5cm (-2.22), weight 21,4Kg (-2.07), OFC 51cm (-1.3), BMI 14 (-1.52); 9y10m-mild intellectual disability (IQ: 69); 30m-walk; special education; no autistic features; short attention span, no abnormal personality traits; no sleep disturbances; no seizures; no hypotonia; no hearing loss; strabismus divergens of left eye; no pulmonary abnormalities; no cardiovascular abnormalities; <14d-feeding difficulties, weaning was problematic; no genitourinary abnormalities; no endocrinological abnormalities; metabolic tests negative; 5th finger clinodyktyly; thin hair, coarse facial features, upward slant of palpebral fissures, mild hypertelorism, iris stellatae, low broad nasal bridge, elevated philtrum, widely spaced small teeth, broad mouth with full lips, tapering fingers, joint hyperlaxity (Beighton score 6/8); Joint hyperlaxity; 1 cafe au lait spot; dental abnormalities
Inheritance	Isolated (sporadic)
Age/Examination	9y10m (9 years, 10 months)
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