Phenotype #0000158772

Individual ID	00210206
Associated disease	?
Diagnosis/Initial	specific facial gestalt, intellectual disability, feeding problems, impaired growth
Diagnosis/Definite	-
Phenotype details	frontal and temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); malar flattening (HP:0000272); frontal bossing (HP:0002007); mild periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); no hypoplasia external ear (-HP:0008772); narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); anteverted nares; narrow mouth (HP:0000160); downturned corners mouth (HP:0002714); no mandibular prognathia (HP:0000303); no thin upper lip (-HP:0000219); Mildly tapered digits; Bilateral orchidopexy; feeding difficulties in infancy (HP:0008872); gastroesophageal reflux (HP:0002020); no severe constipation (-HP:0002019); Taking formula at 30m; conductive hearing impairment (HP:0000405); delayed intellectual disability; Absent speech, no first words, Babble only at 30m; walk-29m, unstable gait at 30m; Limited social interaction, manipulates toys; no seizures; muscular hypotonia (HP:0001252); Bilateral patchy areas of abnormal white matter; bilateral perisylvian polymicrogyria.; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 39; birth weight 2380 g (~1st); 7y-weight 18 kg(~2nd), height 110 cm (~1st), head circumference 50 cm (~1st)
Inheritance	Isolated (sporadic)
Age/Examination	2y11m (2 years, 11 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	2018-12-27 16:19:42 +01:00 (CET)
Date last edited	N/A