Phenotype #0000230573

Individual ID	00303495
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	postnatal weight –5 SD, OFC –3.5 SD; postnatal growth deficiency; developmental delay/initellectual disability; normal hands, normal feet; normal skin; no pectus; no scoliosis; no inguinal hernia; no cardiac defects; no gastrourigenital defects; no lymphatic malformations; no recurrent infections; normal hair; normal eyebrows; normal forehead; no hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; no ptosis; normal nasal bridge; no flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; normal philtrum; no thin upper vermillion; normal mouth; normal ears
Inheritance	Isolated (sporadic)
Age/Examination	8m
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