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HSD10 disease, infantile type
ORPHA:391428 · Clinical subtype · Subtype of disorder
HPO 表現型（共 51 項）
Very frequent (99-80%)(4)
- Abnormal circulating enzyme concentration or activityHP:0012379
- Abnormality of mitochondrial metabolismHP:0003287
- Increased circulating lactate concentrationHP:0002151
- Increased CSF lactateHP:0002490
Frequent (79-30%)(13)
- Abnormal concentration of acylcarnitine in the urineHP:0500170
- BlindnessHP:0000618
- Cerebral atrophyHP:0002059
- Delayed speech and language developmentHP:0000750
- Developmental regressionHP:0002376
- Global developmental delayHP:0001263
- HypoglycemiaHP:0001943
- HypotoniaHP:0001252
- Lactic acidosisHP:0003128
- Metabolic acidosisHP:0001942
- Moderate global developmental delayHP:0011343
- NeurodegenerationHP:0002180
- SeizureHP:0001250
Occasional (29-5%)(34)
- Abnormal basal ganglia morphologyHP:0002134
- Abnormal facial shapeHP:0001999
- Abnormality of the lower urinary tractHP:0010936
- Absent speechHP:0001344
- CardiomegalyHP:0001640
- ChoreoathetosisHP:0001266
- CyanosisHP:0000961
- Diffuse cerebral atrophyHP:0002506
- DysarthriaHP:0001260
- DysphagiaHP:0002015
- DystoniaHP:0001332
- Elevated brain lactate level by MRSHP:0012707
- Frontotemporal cerebral atrophyHP:0006892
- Gastrointestinal dysmotilityHP:0002579
- Hearing impairmentHP:0000365
- HyperammonemiaHP:0001987
- Hyperkinetic movementsHP:0002487
- Hypertrophic cardiomyopathyHP:0001639
- Loss of ambulationHP:0002505
- MicrocephalyHP:0000252
- Nonprogressive encephalopathyHP:0007030
- NystagmusHP:0000639
- Optic atrophyHP:0000648
- Paroxysmal bursts of laughterHP:0000749
- Poor coordinationHP:0002370
- Poor head controlHP:0002421
- RestlessnessHP:0000711
- Retinal degenerationHP:0000546
- Rod-cone dystrophyHP:0000510
- Severe intellectual disabilityHP:0010864
- Spastic diplegiaHP:0001264
- Spastic tetraparesisHP:0001285
- Spoken word recognition deficitHP:0030391
- Visual lossHP:0000572