Phenotype #0000161937

Individual ID	00213474
Associated disease	?
Diagnosis/Initial	nNeurodevelopmental syndrome
Diagnosis/Definite	-
Phenotype details	microcephaly (HP:0000252), frontal bossing (HP:0002007), delayed closure of anterior fontanelle (HP:0001476), short nose (HP:0003196), triangular mouth (HP:0000207); cerebellar vermis hypoplasia (HP:0001320), colpocephaly (HP:0030048), history of dilated cerebral ventricles (HP:0002119), history of tethered cord (HP:0002144), intellectual disability, moderate (HP:0002342), non-verbal (HP:0001344), developmental delay (HP:0001263), hypotonia (HP:0001290); history of hydronephrosis (HP:0000126), small right kidney (HP:0012583), renal cysts (HP:0000107), history of bilateral vesicoureteral reflux (HP:0000076), ureteral duplication (HP:0000073), absent clitoris (HP:0040255); vision loss (HP:0000572), history of strabismus (HP:0000486), history of nystagmus (HP:0000639), pigmentary retinopathy (HP:0000580), history of epiblepharon (HP:0011225), corneal scarring (HP:0000559), history of eye-lash inversion (HP:0001128); bilateral post axial polydactyly on feet (HP:0100259), history of scoliosis (HP:0002650), mild pectus excavatum (HP:0000767); short stature (HP:0004322), sacral dimple (HP:0000960), sensorineural hearing impairment (HP:0000407), sleep apnea (HP:0010535), anus malposition (HP:0004397), eczema (HP:0000964)
Inheritance	Familial, autosomal recessive
Age/Examination	11y (11 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	2019-01-12 19:15:27 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD

TULP1 (tubby like protein 1)

Phenotype #0000161937