Phenotype #0000335904

Individual ID	00446702
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	GDACCF
Phenotype details	pregnancy uncomplicated, mother noted diminished fetal movements; birth 35w+4, weight 2.68 kg (–0.30 SD), length 47 cm (–0.37 SD), OFC 32 cm (–0.75 SD); severe feeding problems, tube feeding need for sufficient caloric intake; 6y8m-height 110.2cm (–2.29 SD), 6y8m-weight 17 kg (–1.09 SD), 6y6m-OFC –2.76 SD; 3y-walked independentl; 3y-spoke; mild intellectual delay; triangular-shaped face with pointed chin; normal blond straight head hair, hypertrichosis of arms and back; epicanthus, upslanted palpebral fissures, hyperopia (+6.5D); full nasal tip, prominent columella; deeply grooved philtrum; full lower lip; prominent crus helicis right ear; pointed chin; normal thorax; congenital trigger thumb, dysplastic nail left hallux; normal genitalia; no puberty; no epilepsy; MRI brain thin corpus callosum, slightly delayed myelination, suggestion of bilateral parieto-occiptalpolymicrogyria, periventricular hyperintensities; no cardiac anomalies; recurrent upper airway infections, delayed intestinal mobility problems, late first tooth eruption > 3y
Inheritance	Isolated (sporadic)
Age/Examination	6y9m (6 years, 9 months)
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	2024-01-21 21:30:39 +01:00 (CET)
Date last edited	N/A