All individuals with variants in gene NCAPG2

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00213474 30609410-FamDM074Pat PubMed: Khan 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States European - - - - ? 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) 2 1 Johan den Dunnen
00213475 30609410-FamDM516Pat PubMed: Khan 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F - Mexico Mexican 00y04m - - - ? microcephaly (HP:0000252), micrognathia (HP:0000347), arched eyebrows (HP:0002553); hypertonia (HP:0001276), low-lying conus medullaris (HP:0002143); hydronephrosis (HP:0000126), small kidneys (HP:0000089); vision loss (HP:0000572), Peters anomaly (HP:0000659), glaucoma (HP:0000501), buphthalmos (HP:0000557); clinodactyly, fifth finger, right hand (HP:0030084), absent fourth and fifth digits, left foot; absent fifth digit, right foot (HP:0006209), contractures of left arm and leg (HP:0001371), Intrauterine growth restriction (HP:0001511), small for gestational age (HP:0001518), failure to thrive (HP:0001508), sacral dimple (HP:0000960), patent ductus arteriosus after premature birth (HP:0011649), patent foramen ovale (HP:0001655), tricuspid regurgitation (HP:0005180), heart murmur (HP:0030148), bilateral superior vena cava with no bridging vein (HP:0011668), anemia (HP:0001903), lymphopenia (HP:0001888), neutropenia (HP:0001875), oral-pharyngeal dysphagia (HP:0200136); 4m-deceased 1 1 Johan den Dunnen
00426137 10SN2700 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
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