Trichothiodystrophy

ORPHA:33364 · Disease · Disorder

HPO 表現型（共 91 項）

Occasional (29-5%)(91)

Abnormal pyramidal signHP:0007256
Abnormality of prenatal development or birthHP:0001197
Absence of subcutaneous fatHP:0007485
Alopecia of scalpHP:0002293
AnemiaHP:0001903
Aplasia/Hypoplasia of the nailsHP:0008386
AstigmatismHP:0000483
Bilateral microphthalmosHP:0007633
Bilateral sensorineural hearing impairmentHP:0008619
Bird-like faciesHP:0000320
Brittle hairHP:0002299
BronchoconstrictionHP:4000007
CardiomyopathyHP:0001638
Carious teethHP:0000670
Cerebral cortical atrophyHP:0002120
Cerebral dysmyelinationHP:0007266
ClubbingHP:0001217
Coarse facial featuresHP:0000280
Concave nailHP:0001598
Congenital exfoliative erythrodermaHP:0007381
ConjunctivitisHP:0000509
CraniosynostosisHP:0001363
CryptorchidismHP:0000028
Cutaneous photosensitivityHP:0000992
Decreased total neutrophil countHP:0001875
Defective DNA repair after ultraviolet radiation damageHP:0003079
Delayed skeletal maturationHP:0002750
Developmental cataractHP:0000519
Diffuse cerebellar atrophyHP:0100275
Dry skinHP:0000958
DysarthriaHP:0001260
DysphoniaHP:0001618
Dystrophic fingernailsHP:0008391
EctropionHP:0000656
Eczematoid dermatitisHP:0000964
Enamel hypoplasiaHP:0006297
EpicanthusHP:0000286
EsotropiaHP:0000565
Fragile nailsHP:0001808
Gait ataxiaHP:0002066
Generalized hyperreflexiaHP:0007034
Generalized hypotoniaHP:0001290
Generalized-onset seizureHP:0002197
Global developmental delayHP:0001263
Gonadal dysgenesisHP:0000133
High, narrow palateHP:0002705
HypertelorismHP:0000316
HypertoniaHP:0001276
Hypoplasia of mandible relative to maxillaHP:0410219
HyporeflexiaHP:0001265
HypotelorismHP:0000601
IchthyosisHP:0008064
Increased bone mineral densityHP:0011001
Increased mean corpuscular hemoglobin concentrationHP:0025548
Intention tremorHP:0002080
Intrauterine growth retardationHP:0001511
Joint dislocationHP:0001373
Keratoconjunctivitis siccaHP:0001097
Low-set nipplesHP:0002562
Macular degenerationHP:0000608
MicrocephalyHP:0000252
MicrocorneaHP:0000482
Multiple joint contracturesHP:0002828
MyopiaHP:0000545
Numerous pigmented frecklesHP:0007587
NystagmusHP:0000639
OsteopeniaHP:0000938
PanhypogammaglobulinemiaHP:0003139
Paraplegia/paraparesisHP:0010551
Partial agenesis of the corpus callosumHP:0001338
Peripheral neuropathyHP:0009830
Periventricular leukomalaciaHP:0006970
PhotophobiaHP:0000613
Prematurely aged appearanceHP:0007495
Protruding earHP:0000411
Recurrent bronchopulmonary infectionsHP:0006538
Recurrent infectionsHP:0002719
Reduced social responsivenessHP:0012760
Retinal degenerationHP:0000546
RetrognathiaHP:0000278
Ridged nailHP:0001807
Sparse scalp hairHP:0002209
SpasticityHP:0001257
Split nailHP:0001809
Squamous cell carcinomaHP:0002860
StrabismusHP:0000486
Thoracic kyphosisHP:0002942
Tiger tail bandingHP:0045055
Umbilical herniaHP:0001537
Ventricular septal defectHP:0001629
VentriculomegalyHP:0002119