All individuals with variants in gene WDR45

153 entries on 2 pages. Showing entries 1 - 100.
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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) 1 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) 1 1 Yu Sun
00019841 - PubMed: Gilissen 2014 - F ? - - - - - - ID ID from infancy, regression at adult age; shows parkinsonism and dystonia 1 1 Marianne Vos (LOVD-team)
00050479 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? intellectual disability, generalized hypotonia, brachycephaly, delayed cns myelination, hypodensity of cerebral white matter on mri 1 1 Johan den Dunnen
00050606 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, seizures, scoliosis, abnormal cns myelination, delayed speech and language development 1 1 Johan den Dunnen
00050610 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? constipation, generalized hypotonia, global developmental delay, specific learning disability, autism, thick eyebrow, prominent nose 1 2 Johan den Dunnen
00050612 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - ? constipation, generalized hypotonia, global developmental delay, specific learning disability, seizures, generalized myoclonic seizures, scoliosis, cerebral atrophy, medial flaring of the eyebrow, joint contracture of the hand, wrist flexion contracture 1 2 Johan den Dunnen
00144506 - - - F - (Germany) - - - - - ? Spastic gait (HP:0002064); Postnatal microcephaly (HP:0005484); Global developmental delay (HP:0001263); Strabismus (HP:0000486) 1 1 IMGAG
00152028 - - - - - - - - - - - NBIA5 - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00174870 - - - F - (Germany) - - - - - ? HP:0001263 (Global developmental delay) 1 1 IMGAG
00180178 29286531-Pat30 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy (HP:0001250), myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), autism (HP:0000717). Head MRI: corpus callosum hypoplasia (HP:0002079), abnormal CNS myelination (HP:0011400).Epilepsy (HP:0001250), myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), autism (HP:0000717). Head MRI: corpus callosum hypoplasia (HP:0002079), abnormal CNS myelination (HP:0011400). 1 1 Johan den Dunnen
00302684 - - - M - - - - - - - ? Abnormal CNS myelination (HP:0011400); Seizures (HP:0001250); Muscular hypotonia (HP:0001252); Abnormality of nervous system physiology (HP:0012638); Epileptic encephalopathy (HP:0200134); Delayed CNS myelination (HP:0002188); Abnormal muscle tone (HP:0003808) 1 1 Andreas Laner
00302726 60251 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Germany;Ireland;England;Austria - - - - - NBIA age at deterioration >23y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like repetitive midline handwringing; dystonia; Parkinsonism; limited expressive language; REM sleep disorder; EEG diffuse background slowing with bursts of generalized 3/s spike and wave discharges; staring, absence or atonic seizures; astigmatism, myopia; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302727 63700 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Germany;United States native American (Sioux, Cherokee) - - - - NBIA age at deterioration 26y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; no epliepsy; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; no cerebral atrophy 1 1 Johan den Dunnen
00302728 63701 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Germany;France;Ireland - - - - - NBIA age at deterioration 26y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; excessive movement during sleep; staring, absence or atonic seizures; high myopia, abnormal pupil shape; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302729 63702 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents/relatives F - United States African American - - - - NBIA age at deterioration >29y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; no Parkinsonism; limited expressive language; no sleep problems; staring, absence or atonic seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy; posterior ventriculo- megaly 1 1 Johan den Dunnen
00302730 63703 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - United States African American - - - - NBIA age at deterioration 26y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; limited expressive language; sleep-wake cycle disorder; no epliepsy; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302731 63704 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Puerto Rico Hispanic - - - - NBIA age at deterioration 25y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; no epliepsy; spontaneous retinal detachment; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy 1 1 Johan den Dunnen
00302732 63705 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Romania;France - - - - - NBIA age at deterioration 15y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like hand sterotypies; dystonia; Parkinsonism; limited expressive language; no sleep problems; EEG diffuse background slowing with bursts of generalized 3/s spike and wave discharges; staring, absence or atonic seizures; bilateral partial retinal coloboma; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; no cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302733 63706 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents/relatives F - Germany;Ireland;England - - - - - NBIA age at deterioration 29y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; staring, absence or atonic seizures, febrile seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; no cerebral atrophy; stroke 1 1 Johan den Dunnen
00302734 63707 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - - - - - - - NBIA age at deterioration 37y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; hypersomnolence with choreiform movements at onset of sleep; febrile seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302735 63708 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents M - Germany;Scotland;Ireland - - - - - NBIA age at deterioration 27y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; no epliepsy; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy; mega cisterna magna; stroke 1 1 Johan den Dunnen
00302736 63709 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - Italy;United States northern Europe, native American - - - - NBIA age at deterioration 30y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; no epliepsy; patchy loss of pupillary ruff; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; cerebellar atrophy 1 1 Johan den Dunnen
00302737 63711 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents/relatives F - Netherlands - - - - - NBIA age at deterioration 31y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; limited expressive language; no sleep problems; no epliepsy; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy 1 1 Johan den Dunnen
00302738 63712 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Scotland;Ireland - - - - - NBIA age at deterioration 26y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; Parkinsonism; limited expressive language; parasomnia with nocturnal screaming; no epliepsy; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; cerebellar atrophy 1 1 Johan den Dunnen
00302739 49841 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents M - Germany - - - - - NBIA age at deterioration 28y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; limited expressive language; sleep problems; febrile seizures; visual evoked potential increased latency; T2 hypointense substantia nigra and globus pallidus (high iron); no T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302740 411-201 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - NBIA age at deterioration 30y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; limited expressive language; no sleep problems; no epliepsy; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; cerebellar atrophy 1 1 Johan den Dunnen
00302741 HH56 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA age at deterioration 19y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; limited expressive language; no sleep problems; myoclonic seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302742 HH84 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; no epliepsy; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy; uterine tumour 1 1 Johan den Dunnen
00302743 NBIA10 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Pakistan - - - - - NBIA age at deterioration 16y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; minimal Parkinsonism, only freezing of gait, hesitancy at doorway; l-DOPA responsive; limited expressive language; no sleep problems; staring, absence or atonic seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; no cerebral atrophy; cerebellar atrophy 1 1 Johan den Dunnen
00302744 463 PubMed: Haack 2012, PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents M - United Kingdom (Great Britain) - - - - - NBIA age at deterioration 26y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; staring, absence or atonic seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302745 control PubMed: Haack 2012, PubMed: Hayflick 2013 - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00302747 subject 1 PubMed: Saitsu 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA bedridden; psychomotor retardation; walk-3y; speech no word; nonprogressive cognitive dysfunction during childhood; 26y start cognitive decline; 4y until bedridden after decline; dystonia; rigidity, akinesia; adulthood progressive dementia; aggressive behaviors; epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 25y-moderate cerebral atrophy, 32y/33y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 25y/32y/33y-mild cerebellar atrophy, CT high density in globus pallidus; EEG bilateral frontal spike; visual evoked potential normal; auditory brainstem response low amplitude, normal latency 1 1 Johan den Dunnen
00302748 subject 2 PubMed: Saitsu 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA wheelchair bound; psychomotor retardation; walk-2y7m; speech one word; nonprogressive cognitive dysfunction during childhood; 25y start cognitive decline; dystonia; rigidity, akinesia; adulthood progressive dementia; aggressive behaviors; epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 25y/27y-moderate cerebral atrophy, no eye of the tiger sign, no white matter involvement, 25y/27y-mild cerebellar atrophy, CT mild high density in substantia nigra; EEG bilateral frontal spike, low voltage, slow wave 1 1 Johan den Dunnen
00302749 subject 3 PubMed: Saitsu 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA bedridden; psychomotor retardation; walk-2y2m; speech no word; nonprogressive cognitive dysfunction during childhood; 30y start cognitive decline; 3y until bedridden after decline; dystonia; rigidity; adulthood progressive dementia; no psychiatric symptoms; febrile seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 32y-moderate cerebral atrophy, 39y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 33y/39y-mild cerebellar atrophy, CT high density in substantia nigra; EEG low voltage; EMG dystonic pattern; evoked potential normal prolonged P100 latency; auditory brainstem response no response at 100 dB 1 1 Johan den Dunnen
00302750 subject 4 PubMed: Saitsu 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA bedridden; psychomotor retardation; walk-1y6m; speech two-word sentences; nonprogressive cognitive dysfunction during childhood; 24y start cognitive decline; 1y until bedridden after decline; dystonia; rigidity; adulthood progressive dementia; no psychiatric symptoms; no epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 27y-moderate cerebral atrophy, 46y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 37y/46y-mild cerebellar atrophy, CT high density in ventral midbrain; EEG abnormal; EMG normal 1 1 Johan den Dunnen
00302751 subject 5 PubMed: Saitsu 2013 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA bedridden; psychomotor retardation; walk-1y6m; speech few words; nonprogressive cognitive dysfunction during childhood; 23y start cognitive decline; 1y until bedridden after decline; dystonia; rigidity, tremor, impairment of postural reflex; adulthood progressive dementia; anxiety; epileptic seizure; MRI iron deposition globus pallidus, substantia nigra, central band of T1 hypointensity, 33y-remarkable cerebral atrophy, no eye of the tiger sign, no white matter involvement, 33y-mild cerebellar atrophy, CT high density in globus pallidus; EEG abnormal; visual evoked potential normal 1 1 Johan den Dunnen
00302752 HS152 PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA age at deterioration 25y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; Parkinsonism; l-DOPA responsive; limited expressive language; no sleep problems; EEG diffuse background slowing with bursts of generalized 3/s spike and wave discharges; staring, absence or atonic seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; no cerebellar atrophy 1 1 Johan den Dunnen
00302753 NBIA18 PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected non-carrier parents F - - - 27y - - - NBIA age at deterioration 20y; 27y-deceased; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; no Rett-like features; dystonia; Parkinsonism; limited expressive language; no sleep problems; no epliepsy; no ocular defects; cerebral atrophy; no cerebellar atrophy; neuro-pathology 1 1 Johan den Dunnen
00302754 NBIA21, patient PubMed: Hayflick 2013, PubMed: Crisp 2015 2-generation family, 1 affected, unaffected parents F - United Kingdom (Great Britain) - - - - - NBIA see paper; ..., age at deterioration 29y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; no Parkinsonism; limited expressive language; no sleep problems; febrile seizures; no ocular defects; T2 hypointense substantia nigra and globus pallidus (high iron); T1 hyperintense ‘halo’ midbrain; cerebral atrophy; cerebellar atrophy 1 1 Johan den Dunnen
00302755 HS415 PubMed: Hayflick 2013 2-generation family, 1 affected, unaffected parents F - - - - - - - NBIA age at deterioration 15y; developmental delay, intellectual disability; progressive psychomotor slowing adolescence/adulthood; Rett-like features; dystonia; minimal Parkinsonism, only rigidity; limited expressive language; no sleep problems; staring, absence or atonic seizures; high myopia; T2 hypointense substantia nigra and globus pallidus (high iron); no T1 hyperintense ‘halo’ midbrain; cerebral atrophy; cerebellar atrophy 1 1 Johan den Dunnen
00302756 Pat1 PubMed: Verhoeven 2014 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NBIA see paper; ..., moderate intellectual disability; behavioural problems; nonprogressive cognitive dysfunction during childhood; 32y start of progressive cognitive decline; no psychopathology; wheelchair bound; speech single word; no myopia; dystonia; no Parkinsonism; EEG epileptic seizures focal in early infancy?; urinary incontinence; MRI brain iIron deposition globus pallidus, mesencephalic peduncles; MRI brain cerebral atrophy 1 1 Johan den Dunnen
00302757 Pat2 PubMed: Verhoeven 2014 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - NBIA see paper; ..., severe intellectual disability; behavioural problems; nonprogressive cognitive dysfunction during childhood; 35y start of progressive cognitive decline; depressive symptoms in adulthood?; wheelchair bound; no speech; myopia; dystonia; Parkinsonism rigidity, tremor; EEG epileptic seizures absences, tonic-clonic, tonic (multiple spikes); urinary incontinence; MRI brain iIron deposition globus pallidus, substantia nigra, nucleus ruber; MRI brain cerebral atrophy 1 1 Johan den Dunnen
00302758 Pat3 PubMed: Verhoeven 2014 2-generation family, 1 affected, unaffected non-carrier parents F - Netherlands - - - - - NBIA see paper; ..., moderate intellectual disability; behavioural problems; nonprogressive cognitive dysfunction during childhood; 33y start of progressive cognitive decline; autistic features in early age; walking with support; speech few words; no myopia; dystonia; Parkinsonism rigidity; EEG no epileptic seizures; urinary incontinence; CT cerebral atrophy 1 1 Johan den Dunnen
00302759 patient PubMed: Rathore 2014 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NBIA see paper; … 1 1 Johan den Dunnen
00302760 patient PubMed: Ohba 2014 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA see paper; … 1 1 Johan den Dunnen
00302761 patient PubMed: Ichinose 2014 2-generation family, 1 affected, unaffected parents F - Japan - - - - - NBIA see paper; … 1 1 Johan den Dunnen
00302762 patient PubMed: Ozawa 2014 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA see paper; … 1 1 Johan den Dunnen
00302763 patient PubMed: Okamoto 2014 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA see paper; ..., peculiar facial appearance, mildly elevated serum enzymes, MRI brain iron accumulation 1 1 Johan den Dunnen
00302764 patient PubMed: Van Goethem 2015 - F - - white - - - - NBIA see paper; ..., significant developmental delay in early childhood, severe intellectual disability, neurodegeneration with progressive dystonia and dementia in third decade; MRI brain low signal substantia nigra and both globus pallidi on T2-weighted imaging, no eye-of-the-tiger sign; computed tomography bilateral dense calcification globus pallidus 1 1 Johan den Dunnen
00302788 1883.659 PubMed: Hamdan 2015 - F - Canada - - - - - ID severe intellectual disability; no speech; not walking; no epilepsy; autistic features; no microcephaly, decelerating head growth; no macrocephaly; MRI brain normal; mild spasticity; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities 1 1 Johan den Dunnen
00302809 BPAN-1 PubMed: Tschentscher 2015 - F - Germany - - - - - NBIA see paper; ..., severe global developmental delay in early infancy, expressive speech disorder, generalized seizures, hypertonia, secondary worsening, 27y-progressive gait disturbance, MRI brain hypointensities of globus pallidus in T2-weighed 1 1 Johan den Dunnen
00302810 patient PubMed: Khalifa 2015, comment PubMed: Thiffault 2016 - F - Egypt - - - - - ? see paper; ... 1 1 Johan den Dunnen
00302811 patient PubMed: Paudel 2015 - F - United Kingdom (Great Britain) - - - - - NBIA see paper; ... 1 1 Johan den Dunnen
00302812 patient PubMed: Abidi 2016 - M - France - - - - - NBIA see paper; ... 1 1 Johan den Dunnen
00302813 Case 1 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA walk-3y; febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; wheelchair bound; cognitive dysfunction; 29y-Parkinsonism, rigidity, no tremor; postural abnormality; dystonia; increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; epileptic seizure; good Levodopa responsive; Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects 1 1 Johan den Dunnen
00302814 Case 2 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA walk-17m; febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; wheelchair bound; cognitive dysfunction; 30y-Parkinsonism, rigidity, no tremor; no postural abnormality; dystonia; increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; epileptic seizure; good Levodopa responsive; Levodopa-induced dyskinesia; no RETT-like features; sleep problems; ocular defects; EEG abnormal; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, diffuse cerebral atrophy, no cerebellar atrophy 1 1 Johan den Dunnen
00302815 Case 3 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected parents F - Japan - - - - - NBIA walk-18m; febrile convulsion at infant; speech few words; cognitive dysfunction during childhood; developmental delay, intellectual disability; gait possible; cognitive dysfunction; 32y-Parkinsonism, rigidity, no tremor; postural abnormality; no dystonia; no increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; epileptic seizure; good Levodopa responsive; Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects; EEG abnormal; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, diffuse cerebral atrophy temporal (lt > rt), no cerebellar atrophy, SPECT hypoperfusion left frontotemporal, no MIBG myocardial scintigraphy washout 1 1 Johan den Dunnen
00302816 Case 4 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected parents F - Japan - - - - - NBIA walk-2y; febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; wheelchair bound; cognitive dysfunction; 32y-Parkinsonism, rigidity, no tremor; postural abnormality; no dystonia; increasing deep tendon reflex; no appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; epileptic seizure; excellent Levodopa responsive; no Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects; EEG normal; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, diffuse cerebral atrophy (rt < lt), no cerebellar atrophy 1 1 Johan den Dunnen
00302817 Case 5 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected parents F - Japan - - - - - NBIA febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; wheelchair bound; cognitive dysfunction; 34y-Parkinsonism, rigidity, tremor; postural abnormality; no dystonia; no increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; no epileptic seizure; good Levodopa responsive; no Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, diffuse cerebral atrophy, no cerebellar atrophy 1 1 Johan den Dunnen
00302818 Case 6 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA walk-15m; no febrile convulsion at infant; no speech; cognitive dysfunction during childhood; developmental delay, intellectual disability; gait possible; cognitive dysfunction; 28y-Parkinsonism, rigidity, tremor; postural abnormality; dystonia; no increasing deep tendon reflex; appearances of pathologic reflex; progressive dementia during adulthood; no psychiatric symptoms; no epileptic seizure; excellent Levodopa responsive; Levodopa-induced dyskinesia; no RETT-like features; sleep problems; no ocular defects; EEG abnormal; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, cerebral atrophy hemisphere (rt > lt), cerebellar atrophy, SPECT hypoperfusion rigth hemisphere, no MIBG myocardial scintigraphy washout 1 1 Johan den Dunnen
00302819 Case 7 PubMed: Nishioka 2015 2-generation family, 1 affected, unaffected parents F - Japan - - - - - NBIA walk-14m; febrile convulsion at infant; speech dysarthria, small voice; cognitive dysfunction during childhood; developmental delay, intellectual disability; gait possible; cognitive dysfunction; 39y-Parkinsonism, rigidity, no tremor; no postural abnormality; no dystonia; increasing deep tendon reflex; progressive dementia during adulthood; progressive dementia during adulthood; no psychiatric symptoms; no epileptic seizure; excellent Levodopa responsive; no Levodopa-induced dyskinesia; no RETT-like features; no sleep problems; no ocular defects; EEG normal; MRI brain T2 hypointense substantia nigra and globus pallidus (high iron), T1 hyperintense ‘halo’ in midbrain, no eye-of-the-tiger sign, no white matter involvement, no cerebral atrophy, no cerebellar atrophy, SPECT hypoperfusion occipital, no MIBG myocardial scintigraphy washout 1 1 Johan den Dunnen
00302820 patient PubMed: Ryu 2015 - F - Korea - - - - - NBIA see paper; … 1 1 Johan den Dunnen
00302821 patient PubMed: Long 2015 - F - Canada - - - - - NBIA see paper; ..., mild speech development issue, cognitive difficulties 1 1 Johan den Dunnen
00302822 patient PubMed: Takano 2016 - F - Japan - - - - - NBIA see paper; ..., severe developmental delay, characteristic facial features, chronic elevation of serum aspartate transaminase, lactate dehydrogenase, creatine kinase, and soluble interleukin‐2 receptor, persistent elevation of neuron specific enolase (NSE) in serum and cerebrospinal fluid; MRI brain using susceptibility‐weighted imaging (SWI) demonstrated iron accumulation in the GP and SN bilaterally 1 1 Johan den Dunnen
00302825 patient PubMed: Zarate 2016, Journal: Zarate 2016 2-generation family, affected brother sister, unaffected mosaic mother F;M no United States - - - - - NBIA see paper; ..., profound neurocognitive impairment, seizure 1 2 Johan den Dunnen
00302826 patient PubMed: Xixis 2015, PubMed: Xixis 2016 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NBIA see paper; ..., 3m-focal‐onset seizure 1 1 Johan den Dunnen
00302827 patient PubMed: Hoffjan 2016 2-generation family, 1 affected, unaffected non-carrier parents F - Argentina - - - - - NBIA see paper; ..., developmental delay, microcephaly, seizures, stereotypic hand movements 1 1 Johan den Dunnen
00302828 patient PubMed: Morisada 2016 - F - Japan - - - - - NBIA see paper; ..., early childhood global developmental delay, frequently sucked hand; 6m-febrile convulsion, no history of epilepsy; delay in language development more severe than delay in motor development; able to dress, walk unaided, follow simple instructions until adolescence; after 20y movement ability rapidly declined; 42y-bedridden, unable to communicateMRI brain 21y-no abnormality except non-specific cerebral atrophy, 39y-abnormalities globus pallidus and substantia nigra, with neurodegeneration and iron accumulation brain 1 1 Johan den Dunnen
00302829 patient PubMed: Spiegel 2016 2-generation family, 1 affected, unaffected parents M - Israel - - - - - NBIA see paper; ... 1 1 Johan den Dunnen
00302830 patient PubMed: Wynn 2016 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NBIA see paper; ..., global developmental delay 1 1 Johan den Dunnen
00302831 patient PubMed: Ingrassia 2017 - - - Italy - - - - - NBIA - 1 1 Johan den Dunnen
00302832 twins PubMed: Araújo 2017 3-generation family, affected twin pair, unaffected non-carrier parents F - Portugal - - - - - NBIA see paper; ... 1 2 Johan den Dunnen
00302833 patient PubMed: Redon 2017 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NBIA see paper; ..., encephalopathy, severe psychomotor disability, epilepsy 1 1 Johan den Dunnen
00302835 patient PubMed: Morikawa 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA see paper; ..., 3y10m-onset infantile spasms, developmental delay, intellectual disability, no speech, walk alone, MRI brain atrophy, myelination delay, iron deposition 1 1 Johan den Dunnen
00302836 patient PubMed: Hattingen 2017 2-generation family, 1 affected, unaffected parents M - Germany - - - - - NBIA see paper; ..., gait disturbance, spontaneous drops without adverse-effects reflexes, resulting in injuries face and teeth, Parkinsonian gait with short and shuffling steps, body rotation impaired, increasing oral motor dysfunction with dysphagia 1 1 Johan den Dunnen
00302837 patient PubMed: Takano 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NBIA see paper; ..., profound developmental delay, intellectual disability, non-syndromic epileptic encephalopathy, early brain atrophy, no speech, bedridden, no sleep disturbance, age at regression 1y4m, no Rett-like features, spasticity quadriparesis, hypotonia, no extrapyramidal signs, optic disc atrophy, no microcephaly, 14m-epilepsy, MRI brain atrophy, no myelination delay, 3y-no iron deposition T2WI 1 1 Johan den Dunnen
00302838 patient PubMed: Fonderico 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Italy - - - - - NBIA see paper; ..., stable intellectual disability, hypo-bradykinetic and hypertonic syndrome with juvenile onset 1 1 Johan den Dunnen
00302839 patient PubMed: Endo 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Japan - - - - - NBIA see paper; ..., slowly progressing Parkinsonism in adulthood, epilepsy, intellectual disability in childhood; MRI brain T2‐weighted low signal intensity areas globus pallidus and substantia nigra, T1‐weighted imaging halo in nigra 1 1 Johan den Dunnen
00302840 FamCase1 PubMed: Burger 2017 2-generation family, 1 affected, unaffected non-carrier parents, sister of #302841 F - United States - - - - - NBIA see paper; ..., developmental delay, autism 1 1 Johan den Dunnen
00302842 patient PubMed: Hermann 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Germany - - - - - NBIA see paper; ... 1 1 Johan den Dunnen
00302849 PatA PubMed: Kulikovskaja 2018 - F - Serbia - - - - - NBIA see paper; ..., classic Rett syndrome, early motor development normal, sit-7m, walk-24m, no speech development, microcephaly; 24m-bruxism, stereotypic movements; 36m-epileptic seizures 1 1 Johan den Dunnen
00302853 PatB PubMed: Kulikovskaja 2018 - F - Germany - - - - - ? - 1 1 Johan den Dunnen
00302854 patient PubMed: Willoughby 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - NBIA see paper; ... 1 1 Johan den Dunnen
00302870 Pat1 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA delayed development prior to seizure onset, fixed and followed by 6w, never rolled over, never sat, non-ambulatory; 7m-onset infantile spasms (18m-ceased, 5y-recurred); profound intellectual disability, non-verba, regression with seizure onset: stopped smiling, reduced eye contact; myo conic seizures (onset uncertain, by 15m), absence seizures, tonic seizures, focal impaired awareness seizures (onset 5y); seizure offset 6y10m following bilateral femoral osteotomy; EEG-posterior quadrant epileptiform discharges evolving to abundant posterior spike-wave discharges, polyspike wave and low voltage paroxysmal fast activity L>R, multifocal epileptiform activity, diffuse background slowing, spasms associated with bilateral slow & fast paroxysms (10m and 15m), tonic seizures lasting 2–40 seconds associated with low voltage fast activity R>L, myolconic jerks in sleep associated with polyspike wave;1y4m: large ventricles especially frontal horns, small incompletely rotated hippocampi, thin corpus callosum, decreased white matter volume, delayed myelination (approx 9m), large extra axial spaces; MRI brain 4y1m larger ventricles, round hippocampi, no internal architecture in hippocampi, bright on T2 and improved rotation, very thin corpus callosum, decreased white matter volume and very delayed myelination, blooming in cerebral peduncles and both globus pallidi, FDG-PET 2y4m-extensive bilateral frontal cortical hypometabolism L>R; profound myopia, cortical visual impairment, asymmetric spastic quadriparesis, dislocated left hip, kyphosis, scoliosis, no dysmorphic or behavioral features 1 1 Johan den Dunnen
00302871 Pat2 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA delayed development prior to onset seizures, sat with support 6–8m, “babbling”, sit-16m; onset seizures 16m tonic seizures; development after onset seizures profound intellectual disability, no speech, non-ambulatory, cannot sit, regression with seizure onset, lost ability to sit, roll over, “babble”, use a fork; myoclonic (onset 18m), focal impaired, awareness seizures (onset 3.5y), absence seizures (onset 4.5y), focal impaired awareness seizures evolving to bilateral tonic-clonic seizures (3y 10m); seizure offset ongoing; EEG occipital slowing and sharp waves evolving to generalized spike-wave in sleep followed by decrements, fast activity in wakefulness, then posterior predominant slow spike and wave, polyspike wave and paroxysmal fast activity in sleep, tonic seizures associated with diffuse fast activity and bilateral paroxysmal fast activity; MRI brain 1y2m-large ventricles especially frontal horns, very thin corpus callosum, decreased white matter volume and delayed myelination, 1y11m-large ventricles especially frontal horns, round hippocampi but no internal architecture, thin corpus callosum, decreased white matter volume and severe myelination delay, large extra axial cerebrospinal fluid spaces; peripheral spasticity, no behavioral features, brachycephaly 1 1 Johan den Dunnen
00302872 Pat3 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA development delayed priot to seizure onset, speech acquisition; seizure onset 12m myoclonic; development after onset seizures severe intellectual disability, 18m-single words, 9y-rare word combinations, currently 20 single words, follows simple commands, regression with frequent seizures, loss of speech, less response to painful stimuli; febrile non-convulsive status epilepticus (14m), focal impaired awareness seizures with clonic component, seizure offset 10.5y; EEG-frequent irregular generalized spike-wave, background slowing with occipital predominance, myoclonic jerks associated with irregular generalized spike-wave, staring episodes with irregular generalized spike-wave with variable lead from central and posterior regions, focal clonic seizures emanating from L or R central region; MRI brain 9y4m-mild ventriculomegaly, thin corpus callosum in posterior body and splenium, subtle white matter volume reduction, normal myelination, SWI blooming in cerebral peduncles and globus pallidi, 10y5m:-mild subtle white matter volume reduction, normal myelination; sleep disturbance, dental issues, oro-motor apraxia, moderate pes planus, peripheral hypotonia, intoeing with wide-based gait, poor coordination, high pain threshold, seizure trigger: fever, head flexion, aggression, broad nasal bridge, hypertelorism, mild facial asymmetry 1 1 Johan den Dunnen
00302873 Pat4 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA delayed development prior to seizure onset, rolled over=5m, sat-10m; seizure onset 8m infantile spasms; delayed development after seizure onset, no speech, pulls to stand, cruising, eats with spoon, no regression; focal impaired awareness seizures (9m), infantile spasms with head deviation to L (16m); seizure offset ongoing; EEG-8m modified hypsarrhythmia, 9m-bi-temporal epileptiform activity during sleep, hypsarrhythmia resolved, from 10m-multifocal epileptiform activity, generalized spike-wave; MRI brain 7m-prominence of ventricles and extra axial cerebrospinal fluid spaces, incomplete rotation of L hippocampi, generally thin corpus callosum, normal white matter volume and myelination; hypertension (frusemide 1mg/kg daily), diarrhoea, no behavioral features, cushingoid features 1 1 Johan den Dunnen
00302874 Pat5 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA delayed development prior to seizure onset, smiling; seizure onset 17m, febrile seizure; after seizure onset severe intellectual disability, few single words, walks independently, regression with seizure onset loss of speech; atonic seizures (onset 24m), myoclonic (onset uncertain), non-convulsive status epilepticus (onset 2y10m), atypical absence seizures (onset 27m), seizure offset 5y, rare febrile tonic-clonic seizures from 4y2m; EEG generalized spike-wave, polyspike wave, biposterior quadrant epileptiform activity R>L, slow background, atypical absence seizure with 1.5–2.5 Hz generalized spike-wave; MRI brain 23m-normal, 5y-mild cerebellar atrophy, mild reduction in white matter volume; Genua valgum (knock knees), no dysmorphic or behavioral features 1 1 Johan den Dunnen
00302875 Pat6 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA development prior to seizure onset delayed speech acquisition, no spontaneous speech, could repeat and imitate intonation and speech sounds at 12m; 12m- onset seizures, focal seizure with fever; after seizure onset severe intellectual disability, few single words, walks independently, regression with seizure onset: loss of “babble”; febrile focal impaired awareness seizures (onset 1y); seizure offset 3y; EEG no definite epileptiform discharges, background slowing; MRI brain 1y6m-thin corpus callosum, normal white matter volume and myelination, 3y6m-mild cerebellar atrophy of superior vermis, prominent ventricles, extra axial cerebrospinal fluid spaces, thin corpus callosum, mild reduction in white matter, myelination normal; sleep disturbance, no dysmorphic or behavioral features 1 1 Johan den Dunnen
00302876 Pat7 PubMed: Carvill 2018 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NBIA delayed development prior to seizure onset, sat-2.5y, no speech, standing with support, not walking; onset seizures 36m, drop attacks, severe intellectual disability, walks with assistance, reaches for spoon; focal impaired awareness seizures; seizure offset ongoing; EEG diffuse moderate background slowing, multifocal discharges, generalized spike-wave, generalised paroxysmal fast activity; MRI brain normal; episodes of hyperventilation, severe autistic behavior, no dysmorphic features 1 1 Johan den Dunnen
00302877 Pat1 PubMed: Nakashima 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NBIA see paper; ..., 6m-onset seizures, spasms; EEG-14m hypsarrhythmia, high-amplitude slow waves and multifocal spikes; no neurological findings; intellectual disability; bed-ridden, no speech; MRI brain no iron deposition, cerebral atrophy, subdural hematoma 1 1 Johan den Dunnen
00302878 Pat2 PubMed: Nakashima 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NBIA see paper; ..., 5m-onset seizures, spasms; EEG-19m hypsarrhythmia, high-amplitude slow waves and multifocal spikes; no neurological findings; intellectual disability; bed-ridden, no speech; MRI brain no iron deposition, cerebral atrophy, delayed myelination 1 1 Johan den Dunnen
00302879 Pat3 PubMed: Nakashima 2016 2-generation family, 1 affected, unaffected parents M - Japan - - - - - NBIA see paper; ..., 5m-onset seizures, spasms > tonic seizures; EEG hypsarrhythmia; hypotonia; intellectual disability; bed-ridden, no speech; MRI brain susceptibility-weighted imaging iron deposition, cerebral atrophy, delayed myelination, cerebellar atrophy 1 1 Johan den Dunnen
00302881 Pat2 PubMed: Srivastava 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NBIA see paper; ..., intellectual disability, epilepsy, microcephaly, hypotonia, spasticity 1 1 Johan den Dunnen
00302888 PatB PubMed: Percy 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NBIA see paper; ... 1 1 Johan den Dunnen
00302892 Pat1 PubMed: Ishiyama 2018 2-generation family, 1 affected, unaffected parents F - Japan - - - - - NBIA see paper; ... 1 1 Johan den Dunnen
00302894 Pat2 PubMed: Ishiyama 2018 2-generation family, 1 affected, unaffected parents F - Japan - - - - - NBIA head control-3m, sit-6m, unable tostand up, unable to walk without assistance, speech not acquired meaningful words; 10m-initial episode of status epilepticus associated with pyrexia, EEG normal, CTbrain normal; multiple episodes occurred, 2y2m-status epilepticus induced by pyrexia, flu test negative, MRI brain hypointensity to isointensity on T1-weighted images, hyperintensity on T2-weighted images, swelling globus pallidus and substantia nigra, QSM showed increased magnetic susceptibility globus pallidus (381 ppb) and substantia nigra (425 ppb) 1 1 Johan den Dunnen
00302895 patient PubMed: Lim 2018 2-generation family, 1 affected, unaffected parents F no Malaysia India - - - - NBIA see paper; ..., 13m-seizures associated with fever and urinary tract infections 1 1 Johan den Dunnen
00302896 Pat1 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - NBIA walk unsteadily-22m to 3y; speech single word; no dystonia; epileptic seizure; cognitive dysfunction; MRI brain reduced cerebral white matter, thin corpus callosum, clear gray matter boundaries, cerebral lateral ventricle expanded, SWI hypointensity in bilateral globus pallidus and brainstem ventral side, SEEG/VEEG wide spike wave, sharp wave, spine slow wave; milk allergy, thrombocytopenia, atelencephalia, developmental delay 1 1 Johan den Dunnen
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