Phenotypes for disease #05229 (NBIA (neurodegeneration, with brain iron accumulation (NBIA)))

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Phenotype details: additional information on the phenotype of the individual, preferably use HPO terms only (http://www.human-phenotype-ontology.org/)

Diagnosis/Initial: initial diagnosis, before molecular testing

Diagnosis/Definite: phenotype individual after molecular testing (OMIM abbreviation)

Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:

Unknown
Familial
Familial, autosomal dominant
Familial, autosomal recessive
Familial, X-linked
Familial, X-linked dominant
Familial, X-linked dominant, male sparing
Familial, X-linked recessive
Paternal, Y-linked
Maternal, mitochondrial
Isolated (sporadic)
Di-genic
Complex
- = Not applicable

Age/Examination: age at which the individual was examined.

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Age/Onset: Age first symptoms disease appeared in individual:

35y = 35 years
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

Phenotype/Onset: individual's phenotype at Age/Onset described using HPO

Protein: result from protein staining

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123 entries on 2 pages. Showing entries 1 - 100.

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Phenotype ID	Phenotype details	Diagnosis/Initial	Diagnosis/Definite	Inheritance	Age/Examination	Age/Onset	Phenotype/Onset	Protein	Owner	Individual ID
0000229809	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302726
0000229810	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302727
0000229811	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302728
0000229812	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302729
0000229813	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302730
0000229814	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302731
0000229815	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302732
0000229816	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302733
0000229817	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302734
0000229818	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302735
0000229819	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302736
0000229820	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302737
0000229821	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302738
0000229822	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302739
0000229823	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302740
0000229824	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302741
0000229825	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302742
0000229826	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302743
0000229827	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	neurodegeneration with brain iron accumulation	-	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302744
0000229829	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	static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)	NBIA5	Isolated (sporadic)	33y	-	psychomotor retardation	-	Johan den Dunnen	00302747
0000229830	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	static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)	NBIA5	Isolated (sporadic)	28y	-	psychomotor retardation	-	Johan den Dunnen	00302748
0000229831	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	static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)	NBIA5	Isolated (sporadic)	40y	-	psychomotor retardation	-	Johan den Dunnen	00302749
0000229832	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	static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)	NBIA5	Isolated (sporadic)	51y	-	psychomotor retardation	-	Johan den Dunnen	00302750
0000229833	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	static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)	NBIA5	Isolated (sporadic)	33y	-	psychomotor retardation	-	Johan den Dunnen	00302751
0000229834	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	4y	-	-	-	Johan den Dunnen	00302752
0000229835	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	27y	-	-	-	Johan den Dunnen	00302753
0000229836	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	31y	-	-	-	Johan den Dunnen	00302754
0000229837	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	16y	-	-	-	Johan den Dunnen	00302755
0000229838	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	33y	-	psychomotor retardation	-	Johan den Dunnen	00302756
0000229839	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	52y	-	psychomotor retardation	-	Johan den Dunnen	00302757
0000229840	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	42y	-	psychomotor retardation	-	Johan den Dunnen	00302758
0000229841	see paper; …	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	15y	-	-	-	Johan den Dunnen	00302759
0000229842	see paper; …	Rett syndrome	NBIA5	Isolated (sporadic)	14y	-	-	-	Johan den Dunnen	00302760
0000229843	see paper; …	severe dystonia-parkinsonism.	NBIA5	Isolated (sporadic)	31y	-	-	-	Johan den Dunnen	00302761
0000229844	see paper; …	tatic encephalopathy of childhood with neurodegeneration in adulthood	NBIA5	Isolated (sporadic)	39y	-	-	-	Johan den Dunnen	00302762
0000229845	see paper; ..., peculiar facial appearance, mildly elevated serum enzymes, MRI brain iron accumulation	Rett syndrome-like	NBIA5	Isolated (sporadic)	6y	-	-	-	Johan den Dunnen	00302763
0000229846	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	intellectual disability	NBIA5	Isolated (sporadic)	25y	-	-	-	Johan den Dunnen	00302764
0000229888	see paper; ..., 25y-progressive gait disturbance, dystonia, spasticity, dementia, hallucinations, MRI brain T2-signal hypointensity in globus pallidus and substantia nigra, progressive cerebral atrophy, EMG signs of proximal denervation	neurodegeneration with brain iron accumulation	-	Familial, autosomal recessive	74y	25y	-	-	Johan den Dunnen	00302806
0000229889	see paper; ..., psychiatric problems, rigidity, dementia, 20y-gait disturbance, MRI brain T2-signal hypointensity in globus pallidus	neurodegeneration with brain iron accumulation	-	Familial, autosomal recessive	84y	-	-	-	Johan den Dunnen	00302807
0000229890	see paper; ..., 10y-bilateral spasticity, brain MRI abnormalities in globus pallidus, optic atrophy, psychiatric symptoms	neurodegeneration with brain iron accumulation	-	Familial, autosomal recessive	1y	10y	-	-	Johan den Dunnen	00302808
0000229891	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	global developmental delay	NBIA5	Familial, autosomal recessive	83y	-	-	-	Johan den Dunnen	00302809
0000229893	see paper; ...	learning difficulties	NBIA5	Isolated (sporadic)	51y	-	-	-	Johan den Dunnen	00302811
0000229894	see paper; ...	early-onset epileptic encephalopathy	NBIA5	Isolated (sporadic)	00y19m	-	epileptic spasms associated with focal seizures	-	Johan den Dunnen	00302812
0000229895	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	30y	-	cognitive dysfunction	-	Johan den Dunnen	00302813
0000229896	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	37y	-	cognitive dysfunction	-	Johan den Dunnen	00302814
0000229897	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	36y	-	cognitive dysfunction	-	Johan den Dunnen	00302815
0000229898	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	33y	-	cognitive dysfunction	-	Johan den Dunnen	00302816
0000229899	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	35y	-	cognitive dysfunction	-	Johan den Dunnen	00302817
0000229900	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	33y	-	cognitive dysfunction	-	Johan den Dunnen	00302818
0000229901	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	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	41y	-	cognitive dysfunction	-	Johan den Dunnen	00302819
0000229902	see paper; …	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	38y	-	-	-	Johan den Dunnen	00302820
0000229903	see paper; ..., mild speech development issue, cognitive difficulties	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	18y	-	-	-	Johan den Dunnen	00302821
0000229904	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	severe developmental delay	NBIA5	Isolated (sporadic)	03y	-	-	-	Johan den Dunnen	00302822
0000229907	see paper; ..., profound neurocognitive impairment, seizure	neurodegeneration with brain iron accumulation	NBIA5	Familial, autosomal dominant	-	-	-	-	Johan den Dunnen	00302825
0000229908	see paper; ..., 3m-focal‐onset seizure	neurodegeneration with brain iron accumulation	NBIA5	Isolated (sporadic)	06y	00y03m	focal‐onset seizure	-	Johan den Dunnen	00302826
0000229909	see paper; ..., developmental delay, microcephaly, seizures, stereotypic hand movements	Rett-like syndrome	NBIA5	Isolated (sporadic)	05y	-	-	-	Johan den Dunnen	00302827
0000229910	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	Rett-like syndrome	NBIA5	Isolated (sporadic)	42y	-	-	-	Johan den Dunnen	00302828
0000229911	see paper; ...	severe infantile male encephalopathy	NBIA5	Isolated (sporadic)	02y	-	2m	-	Johan den Dunnen	00302829
0000229912	see paper; ..., global developmental delay	global developmental delay	NBIA5	Isolated (sporadic)	34y	02y	-	-	Johan den Dunnen	00302830
0000229913	see paper; ...	-	NBIA5	Isolated (sporadic)	08y	-	-	-	Johan den Dunnen	00302832
0000229914	see paper; ..., encephalopathy, severe psychomotor disability, epilepsy	-	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302833
0000229916	see paper; ..., 3y10m-onset infantile spasms, developmental delay, intellectual disability, no speech, walk alone, MRI brain atrophy, myelination delay, iron deposition	-	NBIA5	Isolated (sporadic)	04y	-	-	-	Johan den Dunnen	00302835
0000229917	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	-	NBIA5	Isolated (sporadic)	33y	-	-	-	Johan den Dunnen	00302836
0000229918	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	developmental delay	NBIA5	Isolated (sporadic)	04y	-	-	-	Johan den Dunnen	00302837
0000229919	see paper; ..., stable intellectual disability, hypo-bradykinetic and hypertonic syndrome with juvenile onset	-	NBIA5	Isolated (sporadic)	36y	-	-	-	Johan den Dunnen	00302838
0000229920	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	slowly progressing parkinsonism	NBIA5	Isolated (sporadic)	40y	-	-	-	Johan den Dunnen	00302839
0000229921	see paper; ..., developmental delay, autism	Rett-like syndrome	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302840
0000229923	see paper; ...	delayed psychomotor development	NBIA5	Isolated (sporadic)	30y	-	-	-	Johan den Dunnen	00302842
0000229930	see paper; ..., classic Rett syndrome, early motor development normal, sit-7m, walk-24m, no speech development, microcephaly; 24m-bruxism, stereotypic movements; 36m-epileptic seizures	Rett-like syndrome	NBIA5	Isolated (sporadic)	06y	-	-	-	Johan den Dunnen	00302849
0000229935	see paper; ...	-	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302854
0000229948	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	infantile spasms evolving to Lennox-Gastaut syndrome	NBIA5	Isolated (sporadic)	8y	-	-	-	Johan den Dunnen	00302870
0000229949	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	Lennox-Gastaut syndrome	NBIA5	Isolated (sporadic)	7y	-	-	-	Johan den Dunnen	00302871
0000229950	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	developmental and epileptic encephalopathy	NBIA5	Isolated (sporadic)	11y	-	-	-	Johan den Dunnen	00302872
0000229951	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	infantile spasms	NBIA5	Isolated (sporadic)	2y	-	-	-	Johan den Dunnen	00302873
0000229952	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	myoclonic-atonic seizures	NBIA5	Isolated (sporadic)	7y	-	-	-	Johan den Dunnen	00302874
0000229953	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	focal seizures with fever	NBIA5	Isolated (sporadic)	4y	-	-	-	Johan den Dunnen	00302875
0000229954	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	developmental and epileptic encephalopathy	NBIA5	Isolated (sporadic)	3y	-	-	-	Johan den Dunnen	00302876
0000229955	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	West syndrome	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302877
0000229956	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	West syndrome	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302878
0000229957	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	West syndrome	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302879
0000229959	see paper; ..., intellectual disability, epilepsy, microcephaly, hypotonia, spasticity	intellectual disability, RETT-like syndrome	NBIA5	Isolated (sporadic)	-	-	-	-	Johan den Dunnen	00302881
0000229966	see paper; ...	developmental delay	NBIA5	Isolated (sporadic)	22y	-	-	-	Johan den Dunnen	00302888
0000229971	see paper; ...	developmental delay	NBIA5	Isolated (sporadic)	01y10m	-	-	-	Johan den Dunnen	00302892
0000229972	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)	developmental delay	NBIA5	Isolated (sporadic)	02y02m	-	-	-	Johan den Dunnen	00302894
0000229973	see paper; ..., 13m-seizures associated with fever and urinary tract infections	Rett-like syndrome	NBIA5	Isolated (sporadic)	29y	00y13m	seizures	-	Johan den Dunnen	00302895
0000229974	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	developmental delay	NBIA5	Isolated (sporadic)	-	00y19m	19m upper limbs jittered repeatedly	-	Johan den Dunnen	00302896
0000229975	walking-15m; speech slower than peers; no dystonia; epileptic seizure; cognitive dysfunction; MRI brain normal cerebral white matter, normal corpus callosum, clear gray matter boundaries, normal cerebral ventricle, abnormal SEEG/VEEG; developmental delay	developmental dealy	NBIA5	Isolated (sporadic)	-	15m	15m febrile seizures	-	Johan den Dunnen	00302898
0000229976	walk unsteadily-3y; 3y-speech “baba”, “mama”; 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 epilepsy discharge; obesity, low hairline, atelencephalia, developmental delay, autism	developmental dealy	NBIA5	Isolated (sporadic)	-	26m	26m febrile seizures	-	Johan den Dunnen	00302899
0000229977	not walking; no speech; no dystonia; epileptic seizure; cognitive dysfunction; MRI brain reduced cerebral white matter, thin corpus callosum, clear gray matter boundaries, cerebral lateral ventricle and the third ventricle expanded, SWI hyperintensity in bilateral globus pallidus, abnormal SEEG/VEEG; atelencephalia, developmental delay	developmental dealy	NBIA5	Isolated (sporadic)	-	10m	10m-developmental delay, 2y-seizures	-	Johan den Dunnen	00302900
0000229978	not walking; speech just “yi ya”; hypertonia; epileptic seizure; cognitive dysfunction; MRI brain reduced cerebral white matter, thin corpus callosum, clear gray matter boundaries, cerebral lateral ventricle expanded, abnormal SEEG/VEEG; atelencephalia, developmental delay	developmental dealy	NBIA5	Isolated (sporadic)	-	10m	10m-spasm	-	Johan den Dunnen	00302901
0000229980	see paper; ...	global developmental delay	NBIA5	Isolated (sporadic)	09y	-	-	-	Johan den Dunnen	00302902
0000229981	global developmental delay all motor and cognitive milestones; walk-3y, impaired comprehension, speech only single words; fine motor skills impaired, gait unstable with recurrent falls; 1y-febrile seizures with recurrent epileptic discharges in EEG recordings until 16y; 20y-mental retardation, autistic features, hand-clapping stereotypies, vertical supranuclear gaze palsy, generalized axial more than appendicular bradykinesia, generalized dystonia with involvement arms, legs and trunk, mild spasticity legs; gait slow with small steps not shuffling, walked with both feet slightly plantar-flexed and right foot also everted, when walking trunk flexed by 20degrees and slightly tilted to left	global developmental delay	NBIA5	Isolated (sporadic)	20y	-	-	-	Johan den Dunnen	00302903
0000229982	see paper; …	developmental dealy	NBIA5	Isolated (sporadic)	24y	-	-	-	Johan den Dunnen	00302904
0000229983	see paper; …	developmental dealy	NBIA5	Isolated (sporadic)	39y	-	-	-	Johan den Dunnen	00302905
0000229984	see paper; …	developmental dealy	NBIA5	Isolated (sporadic)	22y	-	-	-	Johan den Dunnen	00302906
0000229985	see paper; ..., 3m-epileptic spasm bilateral eye gazing toward right or left with head deviation, followed by generalized tonic-clonic seizures lasting several minutes occurring in clusters of 2-4 per day with approximately four spams per cluster	epileptic spasm	NBIA5	Isolated (sporadic)	00y09m	00y03m	epileptic spasm	-	Johan den Dunnen	00302907
0000229986	see paper; …	developmental dealy	NBIA5	Isolated (sporadic)	6y6m	-	-	-	Johan den Dunnen	00302908
0000229987	see paper; …	developmental dealy	NBIA5	Isolated (sporadic)	1y7m	-	-	-	Johan den Dunnen	00302909
0000229988	see paper; …	developmental dealy	NBIA5	Isolated (sporadic)	7y8m	-	-	-	Johan den Dunnen	00302910
0000229989	see paper; …	developmental dealy	NBIA5	Isolated (sporadic)	3y9m	-	-	-	Johan den Dunnen	00302911

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Global Variome shared LOVD

COL18A1 (collagen, type XVIII, alpha 1)