Phenotype #0000230581

Individual ID	00303503
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight +0.25 SD; postnatal weight –2.5 SD, OFC –3.5 SD; postnatal growth deficiency; no developmental delay, no initellectual disability; no seizures; no hypotonia, no contractures; no endocrine issues; no hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus, optic atroph; normal skin; pectus; no scoliosis; no inguinal hernia; Pulmonary stenosis; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal eyebrows; broad forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; epicanthal folds; no ptosis; wise nasal bridge; flared nostrils; up broad nasal tip; no low-hanging columella; no underdeveloped midface; long philtrum; thin upper vermillion; corners down mouth; low-set ears; webbed neck
Inheritance	Familial, autosomal dominant
Age/Examination	>18y (later than 18 years)
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	2020-06-15 09:56:59 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD