Phenotype #0000187355

Individual ID	00248359
Associated disease	NDD
Diagnosis/Initial	severe DD/ID
Diagnosis/Definite	-
Phenotype details	severe developmental delay/intellectual disability; Generalized (onset at 3 years), tonic-clonic seizures, inefficient treatments but remission since 6 years 9 months; Hypotonia; Strabismus inconstant; MRI brain cerebral atrophy, pachygyria of frontal lobes; microcephaly; Large nose with bulbous nasal tip and low hanging columella; short philtrum; Wide mouth; Widely spaced teeth; Prognathism; synophrys, hypertrichosis; Long palpebral fissures, low set ears, mild facial asymmetry, gingival hyperplasia diabetes; mesomelic dysplasia 4 limbs; Short humerus, hypoplastic short fibula; Transverse palmar crease, limited pronosupination, proximal deviation of thumbs, small feet, absent calcanei, broad 1th toes, polydactyly, cutaneous process on the side of the 5th finger and cutaneous syndactyly 3th-6th toes on left foot, four metatarsals and partial syndactyly 3th-4th toes on right foot; Scoliosis, fusion 1th-2th ribs, sacral sinus; Coxa valga, hip dysplasia; no osteopenia; horseshoe kidney; Сonstipation, anal dystopia; failure to thrive; no respiratory problems; Popliteal pterygium
Inheritance	Isolated (sporadic)
Age/Examination	08y (8 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-22 16:48:52 +02:00 (CEST)
Date last edited	2021-05-09 15:42:43 +02:00 (CEST)