Disease #01612 (WHS (Wolf-Hirschhorn syndrome (WHS, 14p partial monosomy syndrome)), OMIM:194190)

Official abbreviation WHS
Name Wolf-Hirschhorn syndrome (WHS, 14p partial monosomy syndrome)
OMIM ID 194190
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 22
Phenotype entries for this disease 22
Associated with 1 gene WHSC1
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Individuals

22 entries on 1 page. Showing entries 1 - 22.
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00151921 24357569_Pat01 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 9m-onset seizures; no status epilepticus; no CNS complications; moderate developmental delay (DQ41), 2y3m-walking; height/weight (SD) -2.4/-2.0; oral feeding; no cleft lip/cleft palate; atrial septal defect; no urogenital defect; no skeletal abnormality; Strabismus; no hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151922 24357569_Pat02 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 2y6m-onset seizures; no status epilepticus; severe developmental delay (IQ23), 7y-walking; height/weight (SD) -5.4/-3.5; oral feeding; no cleft lip/cleft palate; atrial septal defect; Scoliosis (mild); no ophthalmologic abnormality; no hearing impairment; Multiple osteochondromatosis WHSC1 - 1 1 Johan den Dunnen
00151923 24357569_Pat03 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 1y3m-onset seizures; no status epilepticus; no CNS complications; severe developmental delay/no sitting; height/weight (SD) -5.3/-2.3; tube feeding; no cleft lip/cleft palate; no heart defect; no urogenital defect; no skeletal abnormality; no ophthalmologic abnormality; severe hearing impairment; hypercholesterolemia WHSC1 - 1 1 Johan den Dunnen
00151924 24357569_Pat04 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 7m-onset seizures; status epilepticus; Periventricular leukomalacia; severe developmental delay/no head control; height/weight (SD) -4.3/-3.0; tube feeding; no cleft lip/cleft palate; atrial septal defect, patent ductus arteriosus, ventricular septal defect; Limited hip flexion; Strabismus; moderate hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151925 24357569_Pat05 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 1y1m-onset seizures; no status epilepticus; moderate developmental delay, 4y-walking; height/weight (SD) -3.8/-2.9; oral feeding; no cleft lip/cleft palate; atrial septal defect; no skeletal abnormality; Strabismus; no hearing impairment; Hypercholesterolemia WHSC1 - 1 1 Johan den Dunnen
00151926 24357569_Pat06 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 2y1m-onset seizures; no status epilepticus; severe developmental delay, 7y-walking; height/weight (SD) -4.9/-3.0; oral feeding; no cleft lip/cleft palate; no heart defect; no urogenital defect; Strabismus (esotropia); no hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151927 24357569_Pat07 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 6m-onset seizures; status epilepticus; no CNS complications; severe developmental delay (IQ10), 7y-walking; height/weight (SD) -5.1/-2.5; oral feeding; no cleft lip/cleft palate; pulmonary stenosis; Renal hypoplasia, renal failure; Pes planus; no ophthalmologic abnormality; moderate hearing impairment; Hypercholesterolemia, hyperuricemia WHSC1 - 1 1 Johan den Dunnen
00151928 24357569_Pat08 PubMed: Shimizu 2014 - M no Japan - - 0 - - WHS 7m-onset seizures; status epilepticus; severe developmental delay, 1y5m-roll over; height/weight (SD) -6.4/-3.7; tube feeding; no cleft lip/cleft palate; no heart defect; no urogenital defect; no skeletal abnormality; nasolacrimal duct obstruction; moderate hearing impairment; Fanconi syndrome due to valproate WHSC1 - 1 1 Johan den Dunnen
00151929 24357569_Pat09 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 10m-onset seizures; status epilepticus; no CNS complications; severe developmental delay, 12m-head control; height/weight (SD) -5.8/-4.1; oral feeding; no cleft lip/cleft palate; atrial septal defect, pulmonary stenosis; no urogenital defect; no skeletal abnormality; Strabismus; moderate hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151930 24357569_Pat10 PubMed: Shimizu 2014 - M no Japan - - 0 - - WHS no seizures; no status epilepticus; no CNS complications; severe developmental delay; height/weight (SD) -4.5/-3.9; tube feeding; cleft palate; patent ductus arteriosus; no urogenital defect; no skeletal abnormality; Right cataract; no hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151931 24357569_Pat11 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 6m-onset seizures; status epilepticus; no CNS complications; severe developmental delay (DQ10), 4y-sitting; height/weight (SD) -4.1/-3.3; tube feeding; submucous cleft palate; AR; no urogenital defect; Strabismus, nasolacrimal duct obstruction; no hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151932 24357569_Pat12 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 7m-onset seizures; status epilepticus; Ventricular enlargement; severe developmental delay, 2y-head contro; height/weight (SD) -11.7/-5.3; tube feeding; cleft lip/cleft palate; pulmonary stenosis; Renal hypoplasia, renal failure; Scoliosis (mild); Strabismus (exotropia); severe hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151933 24357569_Pat13 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS no seizures; no status epilepticus; no CNS complications; moderate developmental delay, 2y3m walking; height/weight (SD) -3.0/-2.3; tube feeding; no cleft lip/cleft palate; ventricular septal defect; no urogenital defect; no skeletal abnormality; no ophthalmologic abnormality;  ;   WHSC1 - 1 1 Johan den Dunnen
00151934 24357569_Pat14 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 9m-onset seizures; status epilepticus; no CNS complications; severe developmental delay, walking; height/weight (SD) -5.2/-4.0; oral feeding;  ; atrial septal defect; no urogenital defect; no skeletal abnormality; no ophthalmologic abnormality; moderate hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151935 24357569_Pat15 PubMed: Shimizu 2014 - M no Japan - - 0 - - WHS 8m-onset seizures; status epilepticus; Ventricular enlargement; severe developmental delay; height/weight (SD) -2.0/-2.3; oral feeding; no cleft lip/cleft palate; atrial septal defect, pulmonary stenosis; Criptorchidism; no skeletal abnormality; moderate hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151936 24357569_Pat16 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 9m-onset seizures; status epilepticus; hypoplasia corpus callosum, Cerebellar atrophy; severe developmental delay (DQ30), 9m-head control; height/weight (SD) –3.4/–2.7; tube feeding; submucous cleft palate; atrial septal defect, patent ductus arteriosus; Hydronephrosis; Talipes varus; Strabismus (exotropia), nasolacrimal duct obstruction; no hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151937 24357569_Pat17 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 1y-onset seizures; status epilepticus; hypoplasia corpus callosum; severe developmental delay (IQ10), 5y-walking; height/weight (SD) –5.3/–3.8; oral feeding; no cleft lip/cleft palate; atrial septal defect; Renal hypoplasia, renal failure; Acetabular dysplasia; Cataract; no hearing impairment; Hypercholesterolemia WHSC1 - 1 1 Johan den Dunnen
00151938 24357569_Pat18 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 1y2m-onset seizures; status epilepticus; no CNS complications; severe developmental delay/, head control; height/weight (SD) –5.6/–4.0; tube feeding; no cleft lip/cleft palate; atrial septal defect, pulmonary stenosis; Renal hypoplasia, renal failure; Sagittal craniosynostosis; Coloboma; no hearing impairment; Hypercholesterolemia WHSC1 - 1 1 Johan den Dunnen
00151939 24357569_Pat19 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 2m-onset seizures; status epilepticus; no CNS complications; severe developmental delay, no head control; height/weight (SD) –4.4/–2.4; tube feeding; no cleft lip/cleft palate; atrial septal defect, pulmonary stenosis; no urogenital defect; Scoliosis; Optic nerve atrophy; moderate hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151940 24357569_Pat20 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 1m-onset seizures; no status epilepticus; Cerebral atrophy; severe developmental delay, no head control; height/weight (SD) –3.3/–2.6; tube feeding; no cleft lip/cleft palate; patent ductus arteriosus, ventricular septal defect; Renal hypoplasia, vesicoureteric reflux; no skeletal abnormality; no ophthalmologic abnormality; moderate hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151941 24357569_Pat21 PubMed: Shimizu 2014 - F no Japan - - 0 - - WHS 11m-onset seizures; status epilepticus; Cerebral atrophy; severe developmental delay; height/weight (SD) –2.3/–3.1; feeding gastrostomy; cleft palate; atrial septal defect, patent ductus arteriosus; ureteropelvic junction stenosis, renal failure; Talipes varus Cervical spine abnormalities; no ophthalmologic abnormality; severe hearing impairment;   WHSC1 - 1 1 Johan den Dunnen
00151942 24357569_Pat22 PubMed: Shimizu 2014 - M no Japan - - 0 - - WHS 2m-onset seizures; status epilepticus; HCC, Grey matter heterotopia, white matter volume loss; severe developmental delay (DQ10), no head control; height/weight (SD) –1.3/–1.4; feeding gastrostomy; no cleft lip/cleft palate; atrial septal defect; renal dysplasia, renal failure, cryptorchidism, hypospadias; no skeletal abnormality; Cataract, coloboma; severe hearing impairment; WHSC1 - 1 1 Johan den Dunnen
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