All individuals with variants in gene FGF13

10 entries on 1 page. Showing entries 1 - 10.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 8 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 8 1 Yu Sun
00324120 FamAPat1 PubMed: Fry 2020, Journal: Fry 2020 2-generation family, affected brother/sister M - Wales - - - - - ? 13y10m-OFC-1.4 SD; profound intellectual disability or developmental delay; 11d-apneas, repetitive swallowing, head deviation, eye twitching; 2m-focal seizures, 7m-generalized seizures; EEG multiple epileptogenic temporal foci, epilepsy of infancy with migrating focal seizures considered; hypotonia, no hyperreflexia; constipation, abdominal pain, subtotal colectomy, ileostomy 1 2 Johan den Dunnen
00324121 FamAPat2 PubMed: Fry 2020, Journal: Fry 2020 sister F - Wales - - - - - ? 6y9m-OFC +0.8 SD; severe intellectual disability or developmental delay; 11d-apneas, lip smacking, repetitive swallowing, eye deviation, facial twitching; 11m-focal seizures, rarely generalized; 6y8m-ictal EEG, left fronto-temporal focus; normal tone, normal reflexes; left anterior temporal lobectomy, partial amygdalo-hippocampectomy 1 1 Johan den Dunnen
00324122 FamBPat3 PubMed: Fry 2020, Journal: Fry 2020 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) white - - - - ? 19y-OFC -0.2 SD; severe intellectual disability or developmental delay; 4w-apneas, stiffness; 2m-focal seizures, 6m-flexor spasms; 6m-EEG hypsarrhythmia suggestive Lennox-Gastaut syndrome; low axial tone, mild limb hypertonia, no hyperreflexia or tremor; severe scoliosis 1 2 Johan den Dunnen
00324123 FamBPat4 PubMed: Fry 2020, Journal: Fry 2020 brother M - United Kingdom (Great Britain) white - - - - ? 12y5m-OFC -1.4 SD; severe intellectual disability or developmental delay; 6m-head and eye deviation, twitching; 6m-focal seizures, 2.5y-generalized seizures, episodes of nonconvulsive status epilepticus, tonic seizures, vomiting currently; 2.5y-EEG hypsarrhythmia, 11y-EEG suggestive Lennox-Gastaut syndrome; broad-based, unsteady gait, mildly increased limb tone; antenatal renal pelvic dilatation, recurrent urinary tract infection, nephrectomy 1 1 Johan den Dunnen
00324124 FamCPat5 PubMed: Fry 2020, Journal: Fry 2020 2-generation family, 1 affected, unaffected parents M - Canada white - - - - ? 22m-OFC -1.1 SD; profound intellectual disability or developmental delay; 5d-head and eye deviation, blinking, repetitive swallowing; focal dyscognitive seizures; EEG multiple epileptogenic temporal foci, suggestive Lennox-Gastaut syndrome; hypotonia, periodic abnormal posturing; hypothyroidism 1 1 Johan den Dunnen
00324125 FamDPat6 PubMed: Fry 2020, Journal: Fry 2020 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - ? 5y-OFC -2.5 SD; severe intellectual disability or developmental delay; 1d-apnea, cyanosis; epilepsy; atrial septal defect 1 1 Johan den Dunnen
00324126 FamEPat7 PubMed: Fry 2020, Journal: Fry 2020 2-generation family, 1 affected, unaffected parents (half-first cousins) M yes China - - - - - ? 3y2m-OFC -2.6 SD; severe intellectual disability or developmental delay; 6m-focal siezures; 6m-focal seizure, also spasms, myoclonic seizures, generalized tonic-clonic seizures; 23m-EEG atypical hypsarrhythmia and intermittent burst suppression; limb hypertonia, positive Babinski sign, ankle clonus; 14m-regression 1 1 Johan den Dunnen
00450519 F039.1 Journal: Steyaert 2024, PubMed: Steyaert 2025 - F - - - - - - - ? arthrogryposis multiplex congenita, thoracolumbar scoliosis, restrictive ventilatory defect 1 1 Johan den Dunnen
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