Phenotype #0000230577

Individual ID	00303499
Associated disease	?
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	birth weight 0 SD; postnatal weight –1.5 SD, OFC +2 SD; postnatal growth deficiency; severe developmental delay/initellectual disability; seizures; no hypotonia, no contractures; low growth hormone; hypothyroidism; no immunodeficiency; normal hands, normal feet; strabismus; normal skin; no pectus; scoliosis; no inguinal hernia; total anomalous pulmonary venous return coarctation; no gastrourigenital defects; no lymphatic malformations; recurrent infections; hair whorls; normal eyebrows; broad forehead,prominent forehead; hypertelorism; no wide palpebral fissures; no everted lateral eyelids; no epicanthal folds; bilateral ptosis; wise nasal bridge; no flared nostrils; normal nasal tip; no low-hanging columella; no underdeveloped midface; long philtrum; thin upper vermillion; cupid bow mouth, wide mouth; low-set ears; broad jaw, widely spaced teeth; MRI brain mild periventricular, white matter abnormalities (periventricular leukomalacia), hydrocephalus s/p shunting, mildly thin corpus callosum
Inheritance	Isolated (sporadic)
Age/Examination	6y (6 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