 Phenotype ID
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 Phenotype details
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Diagnosis/Initial
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Diagnosis/Definite
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Inheritance
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Age/Examination
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Age/Diagnosis
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Age/Onset
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Phenotype/Onset
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Protein
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Owner
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Individual ID
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| 0000025875 |
see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; chf, hypertrophic septum, hypoplastic ventricles |
cardio-respiratory failure |
- |
Familial, autosomal recessive |
00y00m01d |
- |
00y00m01d |
cardio-respiratory failure |
- |
Johan den Dunnen |
00032398 |
| 0000025876 |
see paper; ... (esp. treatment), 1d-died cardio-respiratory failure; intrauterine growth restriction; birth preterm ; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic ; intrauterine growth restriction, prenatal hypertrophic cardiomyopathy |
respiratory failure |
1d |
Familial, autosomal recessive |
- |
- |
00y00m01d |
respiratory failure |
- |
Johan den Dunnen |
00032399 |
| 0000025877 |
see paper; ... (esp. treatment), 3d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures, myoclonic; no stroke like episodes; encephalopathy; 3d-respiratory distress/insufficiency; no cardiomyopathy; distal arthrogryposis; prenatal ultrasound malformation of cerebellum |
respiratory distress |
- |
Familial, autosomal recessive |
00y00m03d |
- |
00y00m01d |
respiratory distress |
- |
Johan den Dunnen |
00032400 |
| 0000025878 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 10m-ataxia; 3y-spasticity; tetraparesis/paraparesis; 12y-seizures, focal; stroke like episodes; sensory polyneuropathy; 2d-respiratory distress/insufficiency; feeding difficulties; scoliosis; MRI brain 12y-17y cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); parieto-occipital, gliosis; no cystic degeneration of cerebellum; no basal ganglia involvement; occipito-cortical, juxtacortical |
ataxia |
18y |
Familial, autosomal recessive |
- |
- |
00y10m |
ataxia |
- |
Johan den Dunnen |
00032401 |
| 0000299786 |
see paper; ... |
coenzyme Q10 deficiency |
COQ10D1 |
Familial, autosomal recessive |
- |
- |
- |
- |
- |
Johan den Dunnen |
00010537 |
| 0000307832 |
see paper; ... (esp. treatment), 2d-died multi-organ failure; birth preterm ; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; no stroke like episodes; 2d-respiratory distress/insufficiency; prenatal ultrasound cerebellar hypoplasia |
respiratory distress |
- |
Familial, autosomal recessive |
00y00m02d |
- |
00y00m01d |
respiratory distress |
- |
Johan den Dunnen |
00416066 |
| 0000307833 |
see paper; ... (esp. treatment), normal intrauterine growth; birth preterm ; normal growth; delayed motor development; delayed cognitive development; regression in development; infantile dystonia; infancy spasticity; truncal hypotonia; 10w-seizures, focal seizures secondarily generalized; repetitive status epilepticus; no stroke like episodes; encephalopathy; no polyneuropathy; 1d-respiratory distress/insufficiency; feeding difficulties; no reaction to light or objects; no cardiomyopathy; dysmorphic features; intracerebral bleeding at age of 1 m; 20m-MRI brain cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
20m |
- |
70d |
focal seizures |
- |
Johan den Dunnen |
00416067 |
| 0000307834 |
see paper; ... (esp. treatment), hypotrophy, microcephaly; dystrophy, microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; no stroke like episodes; no polyneuropathy; feeding difficulties; poor fixation, strabismus divergens; no cardiomyopathy; 1y-MRI brain cerebellar hypoplasia; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
2y |
- |
1d |
- |
- |
Johan den Dunnen |
00416068 |
| 0000307835 |
see paper; ... (esp. treatment), microcephaly; birth full term; dystrophy, microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 8w-seizures, focal, secondarily generalized; no stroke like episodes; encephalopathy; no respiratory distress/insufficiency; feeding difficulties; poor fixation; no cardiomyopathy; arched eye brows, synorphys; MRI brain 3m-38m no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
38m |
- |
6d |
focal seizures |
- |
Johan den Dunnen |
00416069 |
| 0000307836 |
see paper; ... (esp. treatment), birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; truncal hypotonia; 2m-seizures, focal, secondarily generalized; no stroke like episodes; encephalopathy; no polyneuropathy; no respiratory distress/insufficiency; no cardiomyopathy; no dysmorphic features; 2m-MRI brain no cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
5m |
- |
2m |
focal seizures |
- |
Johan den Dunnen |
00416070 |
| 0000307837 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 5m-spasticity; truncal hypotonia; 1w-seizures, tonic, generalized; status epilepticus; no stroke like episodes; encephalopathy; no polyneuropathy; 1d-apnea; no feeding difficulties; no visual fixation; hypertrophic myocardium; no dysmorphic features; 3m-MRI brain cerebellar atrophy (visual inspection); cerebellum reduced in volume ; cerebellar hypoplasia; brainstem reduced in volume; pons area reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; no stroke-like abnormalities; cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
10m |
- |
1d |
apnea, tonic seizures |
- |
Johan den Dunnen |
00416071 |
| 0000307838 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; no regression in development; 15m-spasticity; no truncal hypotonia; 2,5y-seizures, generalized; no status epilepticus; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 15m-MRI brain no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); bilateral, thalamic lesions; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
2y6m |
- |
1d |
developmental delay, leg spasticity |
- |
Johan den Dunnen |
00416072 |
| 0000307839 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; no regression in development; ataxia; spasticity; no tetraparesis/paraparesis; truncal hypotonia; no seizures; no stroke like episodes; no encephalopathy; no respiratory distress/insufficiency; feeding difficulties; slow saccadic movements; no cardiomyopathy; no dysmorphic features; MRI brain 4y-5.25y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
4y |
- |
11m |
seizures |
- |
Johan den Dunnen |
00416073 |
| 0000307840 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; regression in development; no ataxia; no dystonia; no dysarthria; no dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; 16m-seizures, generalized; repetitive status epilepticus; 16m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 14,3y-18.7y cerebellar atrophy (visual inspection); cerebellum reduced in volume ; no cerebellar hypoplasia; brainstem reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum reduced in volume ; parieto-occipital, ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; parieto-occipital; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
21y |
- |
16m |
status epilepticus |
- |
Johan den Dunnen |
00416074 |
| 0000307841 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; regression in development; no ataxia; no dystonia; no dysarthria; no dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 13m-seizures, generalized; repetitive status epilepticus; 13m-stroke like episodes; encephalopathy; sensory motor polyneuropathy; 18y-tracheostomy secondary to acute respiratory failure ; feeding difficulties; abnormal VEPs; no cardiomyopathy; no dysmorphic features; scoliosis, contractures; MRI brain 17,3y-19.4y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipito-parietal, gliosis; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; parieto-occipital; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
20y |
- |
13m |
status epilepticus |
- |
Johan den Dunnen |
00416075 |
| 0000307842 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 4m-ataxia; 2y-dystonia; dysarthria; dysmetria; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 2y-seizures, focal, tonic ; repetitive status epilepticus; 2y-repetitive stroke like episodes; encephalopathy; nocturnal apneic episodes; feeding difficulties; hyperopia, strabismus; no cardiomyopathy; large ears with overfolded helix, full eyebrows, depressed nasal root, short nose with bulbous tip, long philtrum, deep-set eyes, impression of hypertelorism, singular palmar crease bilateral; kyphoscoliosis; MRI brain 2y-6.25y cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; parieto-occipital, gliosis; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipito-parietal, parasagittal cortico-subcortical lesions, oliguric formation; arachnoidal cyst; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
8y |
- |
1m15d |
respiratory distress (ALTE), developmental delay, truncal hypotonia |
- |
Johan den Dunnen |
00416076 |
| 0000307843 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 36m-ataxia; 2y-dysarthria; 3y-dysmetria; 3y-tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 5y-seizures, generalized tonic-clonic, apnea; repetitive status epilepticus; no stroke like episodes; encephalopathy; feeding difficulties; intermittent. divergent strabismus; no cardiomyopathy; no dysmorphic features; contractures, slight scoliosis; 6.25y-MRI brain no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; no T2/FLAIR abnormalities white matter; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
7y |
- |
1d |
leg spasticity |
- |
Johan den Dunnen |
00416077 |
| 0000307844 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; secondary microcephaly; delayed motor development; delayed cognitive development; regression in development; 15m-ataxia; 15m-dystonia; dysarthria; dysmetria; tremor; 15m-spasticity; hemiparesis; truncal hypotonia; 2y-seizures, none under medication; 2y-status epilepticus ; 2y-stroke like episodes; encephalopathy; no polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; strabismus; no cardiomyopathy; short bulbous nose, broad nasal bridge, long philtrum, deep-set eyes, broad eyebrows, impression of hypertelorism; MRI brain 1y6m-normal, 3y3m-no cerebellar atrophy (visual inspection); no cerebellar hypoplasia; no cerebral atrophy (visual inspection); parieto-occipital ri>le; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; T2/FLAIR abnormalities white matter (white matter and cortical); enlarged supratentorial ventricles; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
3y6m |
- |
15m |
motoric regression, spasticity in lower extremities |
- |
Johan den Dunnen |
00416078 |
| 0000307845 |
see paper; ... (esp. treatment), microcephaly; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; seizures; MRI brain T2/FLAIR abnormalities white matter; delayed myelination; delayed myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
5y6m |
- |
1d |
hypotonia, infantile spasm (epilepsy) |
- |
Johan den Dunnen |
00416079 |
| 0000307846 |
see paper; ... (esp. treatment), microcephaly, hypotrophy; delayed motor development; truncal hypotonia; seizures; cortical visual impairment; no dysmorphic features; microcephaly with anterior forebrain most affected; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
7m |
- |
1d |
hypotonia, infantile spasm (epilepsy) |
- |
Johan den Dunnen |
00416080 |
| 0000307847 |
see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; truncal hypotonia; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
3y |
- |
6m |
hypotonia, developmental delay |
- |
Johan den Dunnen |
00416081 |
| 0000307848 |
see paper; ... (esp. treatment), 6y-died seizures; normal intrauterine growth; birth full term; microcephaly; delayed motor development; delayed cognitive development; no regression in development; 3m-ataxia; 6m-dystonia; no tremor; infancy spasticity; tetraparesis/paraparesis; truncal hypotonia; 3m-seizures, infantile spasms, later generalized tonic clonic seizures; no status epilepticus; no stroke like episodes; encephalopathy; polyneuropathy; no respiratory distress/insufficiency; feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 3y-MRI brain cerebellar atrophy (visual inspection); no cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; bilaterally symmetrical olivary nuclei hypertrophy, appearing hyperintense on T2W and FLAIR images, bilateral hippocampal atrophy, posterior limb of internal capsule showed hyperintense signal on T2W images; delayed myelination; delayed myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
3y |
- |
3m |
infantile spasms |
- |
Johan den Dunnen |
00416082 |
| 0000307849 |
see paper; ... (esp. treatment), 4y-died; infancy spasticity; tetraparesis/paraparesis; infancy seizures; encephalopathy; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
- |
- |
1d |
seizures |
- |
Johan den Dunnen |
00416083 |
| 0000307850 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; tetraparesis/paraparesis; truncal hypotonia; 12y-seizures, partial; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 26y-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical, subcortical hyperintensities; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
26y |
- |
8y |
ataxia |
- |
Johan den Dunnen |
00416084 |
| 0000307851 |
see paper; ... (esp. treatment), normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; regression in development; 8y-ataxia; dysarthria; dysmetria; childhood spasticity; no tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures; 8y-stroke like episodes; no encephalopathy; polyneuropathy; no respiratory distress/insufficiency; no feeding difficulties; no visual impairment/eye movement disorder; no cardiomyopathy; no dysmorphic features; 27y-MRI brain no cerebellar atrophy (visual inspection); cerebellum not reduced in volume; no cerebellar hypoplasia; brainstem not reduced in volume; pons area not reduced in volume; cerebral atrophy (visual inspection); cerebrum not reduced in volume ; occipital-parietal and mediolateral, cortical and subcortical lesions, gliosis and oliguria; no cystic degeneration of cerebellum; no cystic degeneration (noncerebellar); no basal ganglia involvement; occipital cortical and subcortical hyperintensities; normal myelination; normal myelination |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
27y |
- |
8y |
ataxia |
- |
Johan den Dunnen |
00416085 |
| 0000307852 |
see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 4y-ataxia; dysarthria; 4y-tremor; childhood spasticity; tetraparesis/paraparesis; no truncal hypotonia; 12y-seizures, tonic-clonic; stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; 5y-MRI brain no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; tectal glioma; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
15y |
- |
1y |
developmental delay |
- |
Johan den Dunnen |
00416086 |
| 0000307853 |
see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; regression in development; 10y-ataxia; 19y-tremor; no truncal hypotonia; 9y-seizures, tonic-clonic; 13y-stroke like episodes; no respiratory distress/insufficiency; no feeding difficulties; no dysmorphic features; MRI brain 9y-13y no cerebral atrophy (visual inspection); stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; parieto-occipital; cavernoma left parietal lobe; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
14y |
- |
9y |
seizures |
- |
Johan den Dunnen |
00416087 |
| 0000307854 |
see paper; ... (esp. treatment), 2m-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 2m-respiratory distress/insufficiency; feeding difficulties; hypertrophic; glomerulosclerosis; 1w-MRI brain cerebellar hypoplasia; no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; diffuse hyperintensities T2/FLAIR white matter; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
2m |
- |
1d |
respiratory distress |
- |
Johan den Dunnen |
00416088 |
| 0000307855 |
see paper; ... (esp. treatment), 3d-died cardio-respiratory failure; normal intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-seizures; 3d-respiratory distress/insufficiency; cardiomegaly; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
2d |
- |
1d |
respiratory distress |
- |
Johan den Dunnen |
00416089 |
| 0000307856 |
see paper; ... (esp. treatment), 4d-died cardio-respiratory failure; hypotrophic intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures, generalized; no stroke like episodes; encephalopathy; 4d-respiratory distress/insufficiency; hypertrophic ; no dysmorphic features; 28w prenatal ultrasound suggestive for cardiomyopathy, possible cerebellar hypoplasia and intrauterine growth restriction.; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
4d |
- |
1d |
seizures, respiratory distress |
- |
Johan den Dunnen |
00416090 |
| 0000307857 |
see paper; ... (esp. treatment), 19m-died; hypertrophic intrauterine growth; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; decreased fetal movements; 1d-MRI brain cerebellar hypoplasia; cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
9m |
- |
1d |
seizures, respiratory distress |
- |
Johan den Dunnen |
00416091 |
| 0000307858 |
see paper; ... (esp. treatment), 70d-died coma; normal intrauterine growth; birth full term; normal growth; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; feeding difficulties; no cardiomyopathy; cMRI prenatal normal; MRI brain prenatal-2d cerebellar hypoplasia; no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
70d |
- |
1d |
respiratory distress |
- |
Johan den Dunnen |
00416092 |
| 0000307859 |
see paper; ... (esp. treatment), 49d-died; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 1d-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; hip dysplasia; 1w-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
49d |
- |
1d |
hypotonia, respiratory distress |
- |
Johan den Dunnen |
00416093 |
| 0000307860 |
see paper; ... (esp. treatment), 4m-died cardio-respiratory failure; birth full term; microcephaly; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 5d-seizures, generalized; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; feeding difficulties reflux; structural abnormalities of the eyes; hypertrophic; hearing loss; MRI brain 1w-10w no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
4m |
- |
1d |
apnea |
- |
Johan den Dunnen |
00416094 |
| 0000307861 |
see paper; ... (esp. treatment), 8m-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 14d-seizures; no stroke like episodes; encephalopathy; 7d-respiratory distress/insufficiency; feeding difficulties; hypertrophic; intrauterine growth restriction; MRI brain 3w-3m cerebellar atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral cystic degeneration (noncerebellar); basal ganglia involvement, hyperintensities of bilateral. lentiform nuclei; cystic infarcts after crisis; restricted diffusion bilateral frontal wm; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
8m |
- |
7d |
apnea |
- |
Johan den Dunnen |
00416095 |
| 0000307862 |
see paper; ... (esp. treatment), 2d-died respiratory failure; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; no stroke like episodes; 1d-respiratory distress/insufficiency; hypertrophic; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
2d |
- |
1d |
respiratory distress |
- |
Johan den Dunnen |
00416096 |
| 0000307863 |
see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 4m-seizures; no stroke like episodes; encephalopathy; 1d-respiratory distress/insufficiency; cardiogenic shock; 7w-MRI brain mild cerebellar hypoplasia; thinning corpus callosum; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
9m |
- |
1d |
respiratory distress |
- |
Johan den Dunnen |
00416097 |
| 0000307864 |
see paper; ... (esp. treatment), intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; left ventricular hypertrophy; intrauterine growth restriction; MRI brain 7d-9m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection), cystic changes; no stroke-like abnormalities; no cystic degeneration of cerebellum; cystic degeneration (noncerebellar) basal ganglia, wm, thalami; hyperintensity then cystic changes; thinning corpus callosum; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
4y6m |
- |
1d |
respiratory distress |
- |
Johan den Dunnen |
00416098 |
| 0000307865 |
see paper; ... (esp. treatment), 1y-died respiratory failure; intrauterine growth restriction; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cardiomegaly; intrauterine growth restriction; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
1y |
- |
1d |
seizures |
- |
Johan den Dunnen |
00416099 |
| 0000307866 |
see paper; ... (esp. treatment), delayed motor development; delayed cognitive development; developmental stagnation/minimal development; infantile dystonia; truncal hypotonia; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; MRI brain 3w-1y4m no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
3y |
- |
1d |
developmental delay |
- |
Johan den Dunnen |
00416100 |
| 0000307867 |
see paper; ... (esp. treatment), 3y6m-died; birth full term; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 5m-dystonia; 5m-spasticity; tetraparesis/paraparesis; no stroke like episodes; feeding difficulties; cortical visual impairment; no cardiomyopathy; 6m-MRI brain no cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
3y6m |
- |
1d |
visual impairment |
- |
Johan den Dunnen |
00416101 |
| 0000307868 |
see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; infantile dystonia; infancy spasticity; no truncal hypotonia; 6m-seizures, infantile spasm ; no stroke like episodes; cortical visual impairment; no cardiomyopathy; MRI brain 6m-35m cerebellar atrophy (visual inspection); cerebellar hypoplasia; cerebral atrophy (visual inspection); no cystic degeneration of cerebellum; hyperintensity left lentiform nucleus; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
3y3m |
- |
6m |
infantile spasm |
- |
Johan den Dunnen |
00416102 |
| 0000307869 |
see paper; ... (esp. treatment), birth full term; delayed motor development; delayed cognitive development; no truncal hypotonia; 2m-seizures, infantile spasm ; no stroke like episodes; no visual impairment/eye movement disorder; no cardiomyopathy; 32m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; thinning corpus callosum; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
7y |
- |
2m |
infantile spasm |
- |
Johan den Dunnen |
00416103 |
| 0000307870 |
see paper; ... (esp. treatment), birth preterm ; delayed motor development; delayed cognitive development; regression in development; truncal hypotonia; 2m-seizures; no stroke like episodes; 1d-respiratory distress/insufficiency; cortical blindness; dilated cardiomyopathy; 14m-MRI brain no cerebellar atrophy (visual inspection); no cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; no basal ganglia involvement; mild thinning corpus callosum; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
1y6m |
- |
1d |
respiratory distress/hypotonia |
- |
Johan den Dunnen |
00416104 |
| 0000307871 |
see paper; ... (esp. treatment), 20m-died sepsis; birth full term; delayed motor development; delayed cognitive development; 4m-spasticity; truncal hypotonia; 4m-seizures; no stroke like episodes; feeding difficulties; myocarditis; 1y-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; white matter cystic changes; basal ganglia involvement; thinning corpus callosum; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
1y8m |
- |
4m |
seizures |
- |
Johan den Dunnen |
00416105 |
| 0000307872 |
see paper; ... (esp. treatment), 5m-died metabolic crisis; birth full term; hypotrophic; delayed motor development; delayed cognitive development; developmental stagnation/minimal development; 1d-dystonia; truncal hypotonia; 2m-seizures, complex partial; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; hearing impairment; 5m-MRI brain cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; basal ganglia involvement; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
5m |
- |
1d |
developmental delay, failure to thrive, dystonia |
- |
Johan den Dunnen |
00416106 |
| 0000307873 |
see paper; ... (esp. treatment), birth full term; hypotrophic; delayed motor development; delayed cognitive development; 1d-dystonia; truncal hypotonia; 2m-seizures; no stroke like episodes; encephalopathy; respiratory distress/insufficiency; feeding difficulties; nystagmus; MRI brain 1m-normal, 4m-cerebellar atrophy (visual inspection); cerebral atrophy (visual inspection); no stroke-like abnormalities; no cystic degeneration of cerebellum; bilateral, sym. midbrain and basal ganglia lesions; |
neurodevelopmental delay |
- |
Familial, autosomal recessive |
12m |
- |
1d |
developmental delay, failure to thrive, dystonia |
- |
Johan den Dunnen |
00416107 |
