All individuals with variants in gene CLCN6

12 entries on 1 page. Showing entries 1 - 12.
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AscendingIndividual ID     
ID_report     
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Gender     
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VIP     
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Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00104692 16950870-PatA PubMed: Poët 2006, Journal: Poët 2006 2-generation family, 1 affected, unaffected parents - - Poland - - - - - CLN teenage onset 1 1 Johan den Dunnen
00104693 16950870-PatB PubMed: Poët 2006, Journal: Poët 2006 2-generation family, 1 affected, unaffected parents - - United States - - - - - CLN adult onset 1 1 Johan den Dunnen
00104694 16950870-con PubMed: Poët 2006, Journal: Poët 2006 - - - - - - - - - Healthy/Control - 1 3 Johan den Dunnen
00104695 16950870-con PubMed: Poët 2006, Journal: Poët 2006 - - - - - - - - - Healthy/Control - 1 5 Johan den Dunnen
00104696 16950870-con PubMed: Poët 2006, Journal: Poët 2006 - - - - - - - - - Healthy/Control - 1 2 Johan den Dunnen
00104969 22865819-PatH10355 PubMed: Bi 2012, Journal: Bi 2012 - - - - white - - - - - autism spectrum disorder 1 1 Johan den Dunnen
00324116 Pat1 PubMed: Polovitskaya 2020, Journal: Polovitskaya 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - Europe - - - - ? weight 20.0 kg (50, Z−0.63), height 100 cm (<1, Z-3.62), BMI 20 (96.9, Z1.9), OFC 50 (7, Z-1.42); severe developmental delay with regression; absence of spontaneous movements; speech impairment (HP:0002167), absent language; generalized hypotonia, muscular hypotonia (HP:0001252), apostural quadriplegia; no movement disorder (-HP:0100022); no seizures (-HP:0001250); EEG abnormality (HP:0002353); MRI scan anomalies; neurogenic bladder (HP:0000011); hyperthermia (HP:0001945); no cardiovascular system abnormality (-HP:0030680); no hearing abnormality (-HP:0000364); cortical blindness; chronic respiratory insufficiency, tracheostomy; hyperhidrosis, trichorrhexis nodosa: reduced hair copper content; feeding difficulties (HP:0011968), percutaneous endoscopic gastrostomy; hypertelorism, arched eyebrows, long philtrum, thin upper lip; muscle biopsy mild signs of myopathy; sensory peripheral neuropathy 1 1 Johan den Dunnen
00324117 Pat2 PubMed: Polovitskaya 2020, Journal: Polovitskaya 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe 23m - - - ? weight 12.6 kg (70, Z0.52), height 87 cm (64, Z0.37), BMI 16.6 (67, Z0.43), OFC 48 cm (47, Z-0.07); 23m-deceased; global developmental delay (HP:0001263) with regression; 13m-rolling over, no crawling, no sitting and no standing; speech impairment (HP:0002167), single words; severe truncal hypotonia, muscular hypotonia (HP:0001252), no spasticity; movement disorder (HP:0100022); no seizures (-HP:0001250); EEG abnormality (HP:0002353); MRI scan anomalies; neurogenic bladder (HP:0000011); hyperthermia (HP:0001945); no cardiovascular system abnormality (-HP:0030680); no hearing abnormality (-HP:0000364); nystagmus, optic disc elevation, neuroretinal rim pallor; chronic respiratory insufficiency, tracheostomy; hyperhidrosis; feeding difficulties (HP:0011968), percutaneous endoscopic gastrostomy; no craniofacial features (-HP:0001999); muscle biopsy mild signs of myopathy; sensory peripheral neuropathy 1 1 Johan den Dunnen
00324118 Pat3 PubMed: Polovitskaya 2020, Journal: Polovitskaya 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Europe - - - - ? weight 9.5 kg (20, Z−0.84), height 74.4 cm (<1, Z-2.57), BMI 17.14 (85, Z1.04), OFC 46.8 cm (59, Z+0.24); global developmental delay (HP:0001263) with regression; 14m-sit unsupported, cruises with help; speech impairment (HP:0002167), babbles, verbalizes 7 to 8 words; generalized hypotonia (truncal more then appendicular), muscular hypotonia (HP:0001252); no movement disorder (-HP:0100022); no seizures (-HP:0001250); no EEG abnormality (-HP:0002353); MRI scan anomalies; no neurogenic bladder (-HP:0000011); no abnormality of temperature regulation (-HP:0004370); no cardiovascular system abnormality (-HP:0030680); no hearing abnormality (-HP:0000364); optic disc elevation, alternating esotropia, strabismic amblyopia; chronic respiratory insufficiency, tracheostomy, ventilator dependency; no abnormality of skin and annexa (-HP:0000951); feeding difficulties (HP:0011968), percutaneous endoscopic gastrostomy; no craniofacial features (-HP:0001999); muscle biopsy abnormal variation in muscle fiber sizes with reduced type II muscle fibers 1 1 Johan den Dunnen
00390029 16 PubMed: Ruberto 2020 - ? - Italy - - - - - retinal disease Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus 1 1 LOVD
00414398 WHP65 PubMed: Sun 2018 - M - China - - - - - ? - 1 1 LOVD
00434911 241153 - - F no Germany - - - - - CONRIBA Global developmental delay, Delayed speech and language development, Motor delay, Motor stereotypy, Vomiting, Hypotonia 1 1 Andreas Laner
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