Disease #07162 (HJS (Houge-Janssens syndrome))

Official abbreviation HJS
Name Houge-Janssens syndrome
OMIM ID -
Inheritance Autosomal dominant
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -
Date created 2025-04-14 16:07:27 +02:00 (CEST)
Date last edited N/A


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00465180 Pat36 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; mild epilepsy; height normal, OFC SD+2.6; no hypotonia; no autism spectrum disorder; nystagmus; MRI brain normal - PPP2R5C 1 2 Johan den Dunnen
00465181 Pat9 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+2.2; no hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465182 Pat32 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., moderate neurodevelopmental delay; severe epilepsy; heigth SD+2, OFC SD+5.4; hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain large cisterna magna - PPP2R5C 1 1 Johan den Dunnen
00465183 Pat21 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., learning difficulties; no epilepsy; height normal, OFC SD+5.2; mild hypotonia; tall forehead, hypertelorism; no autism spectrum disorder; normal eye vision; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465184 Pat1 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; OFC normal; hypotonia; epicanthus; no autism spectrum disorder; normal eye vision; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465185 Pat6 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; no epilepsy; height normal, OFC SD+3.6; neonatal jaundice; hypotonia; tall forehead, hypertelorism; no autism spectrum disorder; normal eye vision; MRI brain hyperintense white matter foci - PPP2R5C 1 1 Johan den Dunnen
00465186 Pat8 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; heigth SD-2, OFC SD+4.8; hypotonia; tall forehead; autism spectrum disorder; normal eye vision; MRI brain hyperintense white matter foci - PPP2R5C 1 1 Johan den Dunnen
00465187 Pat5 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+3.2; hypotonia; tall forehead, hypertelorism; autism spectrum disorder; normal eye vision; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465188 Pat35 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+4; mild hypotonia; no autism spectrum disorder; normal eye vision - PPP2R5C 1 1 Johan den Dunnen
00465189 Pat18 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; heigth SD-2, OFC SD+2.2; neonatal poor feeding; hypotonia; no autism spectrum disorder; strabismus; MRI brain mildly enlarged ventricles - PPP2R5C 1 1 Johan den Dunnen
00465190 Pat19 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC SD+6; neonatal poor feeding; hypotonia; no facial dysmorphism; no autism spectrum disorder; strabismus; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465191 Pat11 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC SD+4.4; neonatal lethargy; no hypotonia; no facial dysmorphism; autism spectrum disorder; normal eye vision; MRI brain abnormal sulcation - PPP2R5C 1 1 Johan den Dunnen
00465192 Pat29 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - HJS see paper; ..., moderate neurodevelopmental delay; severe epilepsy; height normal, OFC SD+3; neonatal jaundice; no hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision - PPP2R5C 1 1 Johan den Dunnen
00465193 Pat12 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+2.6; mild hypotonia; tall forehead; no autism spectrum disorder; normal eye vision; MRI brain slight corpus callosum hypoplasia - PPP2R5C 1 1 Johan den Dunnen
00465194 Pat7 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; moderate epilepsy; height normal, OFC normal; neonatal poor feeding, jaundice; mild hypotonia; tall forehead; autism spectrum disorder; eye vision CVI; MRI brain hyperintense white matter foci - PPP2R5C 1 1 Johan den Dunnen
00465195 Pat26 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., severe neurodevelopmental delay; severe epilepsy; height normal, OFC normal; neonatal poor feeding; hypotonia; congenital pyloric stenosis; tall forehead, high palate; eye vision CVI; MRI brain mildly enlarged ventricles - PPP2R5C 1 1 Johan den Dunnen
00465196 Pat16 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; severe epilepsy; height normal, OFC normal; neonatal poor feeding; mild hypotonia; tall forehead, high palate; no autism spectrum disorder; normal eye vision; MRI brain hippocampal sclerosis - PPP2R5C 1 1 Johan den Dunnen
00465197 Pat28 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay ax; no epilepsy; height normal, OFC SD+2; neonatal poor feeding; mild hypotonia; no facial dysmorphism; no autism spectrum disorder; normal eye vision; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465198 Pat10 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+2.4; mild hypotonia; congenital coloboma; no facial dysmorphism; no autism spectrum disorder; coloboma; MRI brain large corpus callosum - PPP2R5C 1 1 Johan den Dunnen
00465199 Pat30 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+3; neonatal nystagmus; mild hypotonia; tall forehead; no autism spectrum disorder; nystagmus, bilateral ptosis; MRI brain large corpus callosum - PPP2R5C 1 1 Johan den Dunnen
00465200 Pat14 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; moderate epilepsy; height normal, OFC SD+2; hypotonia; tall forehead; no autism spectrum disorder; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465201 Pat25 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC normal; mild hypotonia; congenital bilateral foot deformity; no autism spectrum disorder; normal eye vision; MRI brain normal - PPP2R5C 1 2 Johan den Dunnen
00465202 Pat37 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC normal; no hypotonia; no congenital malformation; no autism spectrum disorder; normal eye vision - PPP2R5C 1 1 Johan den Dunnen
00465203 Pat22 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., learning difficulties; no epilepsy; heigth SD-2.7, OFC SD−2.8; neonatal poor feeding; hypotonia; epicanthus; no autism spectrum disorder; normal eye vision - PPP2R5C 1 1 Johan den Dunnen
00465204 Pat3 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected parents M - - - - - - - HJS see paper; ..., learning difficulties; no epilepsy; height normal, OFC normal; neonatal suspected drug exposure in utero; hypotonia; no congenital malformation; flat occiput; no autism spectrum disorder; normal eye vision; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
00465205 Pat23 PubMed: Verbinnen 2025 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - HJS see paper; ..., mild neurodevelopmental delay; no epilepsy; height normal, OFC SD+4.9; hypotonia; congenital coloboma; no autism spectrum disorder; nystagmus; MRI brain normal - PPP2R5C 1 1 Johan den Dunnen
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