Disease #05714 (AUKS (Au-Kline syndrome (AUKS)), OMIM:616580)

Official abbreviation AUKS
Name Au-Kline syndrome (AUKS)
OMIM ID 616580
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 hypotonia, developmental delay, moderate‐to‐severe intellectual disability, facial dysmorphic features, autonomic dysfunction, congenital heart disease, hydronephrosis, palate abnormalities, oligodontia, inconstant craniosynostosis or other skeletal anomalies
Remarks -
Date created 2020-04-02 13:32:46 +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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00296017 Pat1 Journal: Au 2015 2-generation family, 1 affected, unaffected non-carrier parents M - Canada - - - - - AUKS birth weight 50th%, length 10-50th%, head circumference 10-50th%; 13y weight 10th%, length >10th%, head circumference >50th%; ridged metopic suture, dolicocephaly sagittal and lambdoid craniosynostosis, long face; long downslanting palpebral fissures proptosis, ptosis broad lateral eyebrows; underdeveloped helices hearing loss (conductive and sensorineural); wide nasal ridge, hypoplastic alae nasi; open bite, downturned mouth, high palate, bifid uvula prominent midline groove of tongue missing molar; widely spaced nipples; 2 small ventricular septal defects; constipation in early childhood; cryptochordism; hip dysplasia, scoliosis extra lumbar vertebrae and multiple vertebral segmentation defects, elbow contractures; planovalgus feet, large hallux, crowded toes, decreased creases on feet; sacral dimple with coccygeal appendage, decreased sweating, intermittent facial rash; hypotonia, hyporeflexia, high pain tolerance; mild intellectual disability, walks independently, commnicates with many words, short phrases and uses signs and devices; normal brain syrinx T7-T9,T12, terminal lipomyelomeningocele HNRNPK HNRNPK 1 1 Johan den Dunnen
00296018 Pat2 Journal: Au 2015 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - AUKS birth weight 90th%, length >95th%, head circumference 75th%; 9y weight 50th%, length 50-75th%, head circumference 75th%; ridged metopic suture, turricephaly long face; hyperopia long palpebral fissures, ptosis optic nerve pit, megalocornea, lagophthalmos, sparse lateral eyebrows; underdeveloped thick helices; wide nasal ridge, cleft of alae nasi; open, downturned mouth high palate, normal uvula prominent midline groove / bifid tongue missing molar and incisor; pectus excavatum, inverted nipples, supernumerary nipples; bicuspid aortic valve aortic root dilation; gastroesophageal reflux, cyclic vomiting, constipation, GI dysmotility, G-tube fed; crytopchordism, vesicoureteral reflux, neurogenic bladder hydronephrosis; hip dysplasia, scoliosis, extra lumbar vertebrae, hyperextensible; post axial polydactyly overlapping toes; sacral dimple decreased sweating, intermittent rash; hypotonia, hyporeflexia, high pain tolerance, migraine; mild-moderate intellectual disability, ADHD, walks with assistance, communicates with few words, many signs, and uses devices; hypomyelination HNRNPK HNRNPK 1 1 Johan den Dunnen
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