All individuals with variants in gene SIAH1

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00332519 Pat1 PubMed: Buratti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Jewish-Ashkenazi - - - - ? birth 39w, weight 3200g; weight 9.9 kg (7th %tile); length 81 cm (44th %tile); OFC 46.5 cm (19th %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; recurrent pneumonia; serous otitis media; motor delay; speech delay; ECG normal; ophthalmology examination normal; dysmorphic features; epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; high arched palate, submucous cleft; micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; no broad thumbs and first toes; no fifth finger clinodactyly; no hypoplastic nails; no hypospadias; no undescended testes 1 1 Johan den Dunnen
00332520 Pat2 PubMed: Buratti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - ? birth 40w, weight 3390g; weight 65 kg (82nd %tile); length 155.5 cm (6th %tile); OFC 53.5 cm (45th %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; no recurrent pneumonia; no serous otitis media; no motor delay; speech delay; learning difficulties; ECG normal; left esotropia; MRI brain normal; renal ultrasound normal; dysmorphic features; epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; bifid uvula; prognathism; small, low set, posteriorly rotated ears; no single transverse palmar crease; broad thumbs and first toes; fifth finger clinodactyly; hypoplastic nails 1 1 Johan den Dunnen
00332521 Pat3 PubMed: Buratti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Europe;China;Costa Rica - - - - ? birth 38w, weight 2920g; weight 11.3 kg (27th %tile); length 86.5 cm (35th %tile); OFC 45.5 cm (2nd %tile); infantile hypotonia; laryngomalacia; gastro-oesophageal reflux disease; no recurrent pneumonia; serous otitis media; motor delay; speech delay; strabismus, bilateral ptosis s/p surgical repair; MRI brain normal; renal ultrasound normal; dysmorphic features; epicanthal folds; hypertelorism; no downslanting palpebral fissures; medially sparse eyebrows; submucous cleft palate, velopharyngeal incompetence; micrognathia; small, low set, posteriorly rotated ears; single transverse palmar crease; no broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails; hypospadias; unilateral undescended testes (left), s/p repair 1 1 Johan den Dunnen
00332522 Pat4 PubMed: Buratti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea - - - - - ? birth 35w, weight 2500g; weight 13.1 kg (Z-score −2.17); length 96 cm (4th %tile); OFC 50 cm (36th %tile); infantile hypotonia; no laryngomalacia; gastro-oesophageal reflux disease; recurrent pneumonia; no serous otitis media; motor delay; speech delay; learning difficulties; ECG atrial septal defect; exotropia; MRI brain predominant perivascular space, no structural anomaly; dysmorphic features; epicanthal folds; hypertelorism; no downslanting palpebral fissures; medially sparse eyebrows; high arched palate; no micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; no broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails; no hypospadias; undescended testes 1 1 Johan den Dunnen
00332523 Pat5 PubMed: Buratti 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - White white - - - - ? birth 39w, weight 2990g; weight 38.7 kg (50th %tile); length 135 cm (9th %tile); OFC 54 cm (75th %tile); infantile hypotonia; laryngomalacia; no gastro-oesophageal reflux disease; no recurrent pneumonia; no serous otitis media; motor delay; speech delay; global mild/moderate learning difficulties; ECG normal; no ophthalmology examination; dysmorphic features; no epicanthal folds; hypertelorism; downslanting palpebral fissures; medially sparse eyebrows; no palate; no micrognathia; small, low set, posteriorly rotated ears; no single transverse palmar crease; broad thumbs and first toes; fifth finger clinodactyly; no hypoplastic nails 1 1 Johan den Dunnen
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