Phenotype #0000158773

Individual ID	00210207
Associated disease	?
Diagnosis/Initial	specific facial gestalt, intellectual disability, feeding problems, impaired growth
Diagnosis/Definite	-
Phenotype details	sparse scalp hair (HP:0002209); frontal bossing (HP:0002007); hypoplasia external ear (HP:0008772); prominent nasal tip (HP:0005274); high palate (HP:0000218); mandibular prognathia (HP:0000303); abnormal dentition (HP:0000164) , malposition secondary teeth, radicular resorption.; Long, narrow fingers. Bilateral 2nd-5th finger campodactyly.; Long, narrow toes. Mild pes cavus.; Abnormal thoracic spine (HP:0100711) , kyphoscoliosis; Long, narrow thorax. Delayed bone age at 5y 7m.; Dilation of the aorta; no genitourinary defects; feeding difficulties in infancy (HP:0008872); gastroesophageal reflux (HP:0002020); 12y drooling (HP:0002307); delay intellectual disability noted from 8m; Delayed speech, Difficulties with pronunciation; Difficulties in writing and language skills. Repeated school year at 7y. Good visual memory.; walk-26m, fine and gross motor clumsiness; Smiles normally, difficult to interpret his emotions. Impulsive. Tactile sensitivity.; no seizures; Facial muscular hypotonia (HP:0001252); Report only: normal at 8y; no polyhydramnios (-HP:0001561); no intrauterine growth retardation (-HP:0001511); birth gestational age 40; birth weight 3200 g (25-50th); 7y9m-weight 21.1 kg(~10th), height 123.2 cm (~25th), head circumference 49.2 cm (16 m), (~95th)
Inheritance	Isolated (sporadic)
Age/Examination	18y6m (18 years, 6 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