Disease #05715 (Okamoto (Okamoto syndrome), OMIM:604916)

Official abbreviation Okamoto
Name Okamoto syndrome
OMIM ID 604916
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene HNRNPK
Associated tissues -
Disease features severe intellectual disability, generalized hypotonia, stenosis ureteropelvic junction with hydronephrosis, cardiac anomalies, characteristic facial gestalt
Remarks -
Date created 2020-04-02 13:50:39 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00296019 patient Journal: Maystadt 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium white;Thailand - - - - Okamoto see paper; ... HNRNPK HNRNPK 1 1 Johan den Dunnen
00296020 patient PubMed: Okamoto 2019 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - Okamoto birth 35w gestation, weight was 3,340g, length 48cm, head circumference 33.6cm; 5y-length was 96.6cm (−2.5SD), weight 14.7kg (−1.4SD), head circumference 53 cm (+1.4SD); lumbar scoliosis, no craniosynostosis; MRI brain cerebral atrophy; intellecutual disability (language delay); motor delay, hypotonia; no microcephaly; no craniosynostosis; metopic ridge; no nodular heterotopia; no hypoplastic corpus callosum; no spinal syrinx; midface hypoplasia; hypertrichosis; long palpebral fissures; ptosis; prominent eyes; no optic nerve abnormality; broad nasal bridge with hypoplastic alae nasi; downturned beaked mouth; no preaulicular pits; abnormal helix; no hearing loss; cleft palate; maloccclusion/open bite; open mouth/wide mouth; midline groove tongue; webbed neck; hydronephrosis/vesicoureteral reflux; stenosis of ureteropelvic junction; no cryptorchidism; cardiac anomaly; gastrointestinal anomaly, omphalocele; loose hypermobile joints; no vertebral segmentation abnormality; scoliosis; congenital hip dysplasia; talipes; no polydactyly HNRNPK HNRNPK 1 1 Johan den Dunnen
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