Phenotype #0000170597

Individual ID	00225482
Associated disease	?
Diagnosis/Initial	multisystem disorder
Diagnosis/Definite	-
Phenotype details	delivery c-section; born at term; no polyhydramnios; decreased fetal movements; bradycardia; decreased body weight; microcephaly; coarse facies; midface hypoplasia; hypertelorism; almond-shaped palpebral fissure; no epicanthal folds; ptosis; long eyelashes; no synophrys; ectropion; unusual nose; downturned mouth; macrostomia; macroglossia; full or thick lips; no dental abnormalities; high arched palate; ear abnormalities; bilateral otitis media; bitemporal narrowing; brachycephaly; plagiocephaly; pruritus; unusual hair; thoracic hypertrichosis; fifth digit hypoplasia and/or clinodactyly; no dystrophic nails; overlapping toes; distal arthrogryposis / joint laxity; hypoplastic nipples; genital anomaly; hypotonia; bilateral hip dislocation; hip dysplasia; no bilateral coxa valga; abnormal bone density; narrow chest; fibular bowing; no genu valgum; bilateral clubfoot; small feet; no pectus excavatum; scoliosis; recurrent infections; immunodeficiency; rickets; obstructive sleep apnea; ventricular septal defect; patent ductus arteriosus; no hepatosplenomegaly; steatorrhea; chronic diarrhea; no gallstones; no gastrostomy tube; renal abnormalities; severe global developmental delay; no hyperreflexia; reduced tendon reflexes; absent achilles reflex; no behavioral issues; abnormal ventricle morphology; no abnormal corpus callosum; cerebral atrophy; no white matter abnormalities; no cerebellar hypoplasia
Inheritance	Familial, autosomal recessive
Age/Examination	-
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	2019-02-17 11:19:47 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD

CDT1 (chromatin licensing and DNA replication factor 1)

Phenotype #0000170597