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ZTTK syndrome
ORPHA:500150 · Malformation syndrome · Disorder
HPO 表現型（共 105 項）
Obligate (100%)(1)
- Intellectual disabilityHP:0001249
Very frequent (99-80%)(3)
- Abnormal brain morphologyHP:0012443
- Abnormal facial shapeHP:0001999
- Global developmental delayHP:0001263
Frequent (79-30%)(15)
- Abnormal cerebral cortex morphologyHP:0002538
- Abnormality of the genitourinary systemHP:0000119
- Autistic behaviorHP:0000729
- Failure to thrive in infancyHP:0001531
- Feeding difficulties in infancyHP:0008872
- Floppy infantHP:0008947
- Generalized-onset seizureHP:0002197
- HypermetropiaHP:0000540
- Hypoplasia of the corpus callosumHP:0002079
- Intrauterine growth retardationHP:0001511
- Joint hypermobilityHP:0001382
- Proportionate short statureHP:0003508
- Severe intellectual disabilityHP:0010864
- StrabismusHP:0000486
- VentriculomegalyHP:0002119
Occasional (29-5%)(86)
- Abnormal cerebral white matter morphologyHP:0002500
- Abnormal common carotid artery morphologyHP:0430021
- Abnormal heart morphologyHP:0001627
- Absent gallbladderHP:0011467
- Absent thumbHP:0009777
- ArachnodactylyHP:0001166
- Arachnoid cystHP:0100702
- Atrial septal defectHP:0001631
- Auditory hallucinationHP:0008765
- Bifid uvulaHP:0000193
- Bilateral renal dysplasiaHP:0012582
- Blue scleraeHP:0000592
- Broad lateral eyebrowHP:0007933
- Cerebellar hemisphere hypoplasiaHP:0100307
- Cerebral visual impairmentHP:0100704
- Cervical ribsHP:0000891
- Chiari malformationHP:0002308
- Chronic diarrheaHP:0002028
- Cleft palateHP:0000175
- Curly hairHP:0002212
- Decreased circulating IgG concentrationHP:0004315
- Decreased secretory IgA concentrationHP:0004433
- Deeply set eyeHP:0000490
- Depressed nasal bridgeHP:0005280
- Developmental regressionHP:0002376
- Downslanted palpebral fissuresHP:0000494
- Downturned corners of mouthHP:0002714
- DysphagiaHP:0002015
- Dysplastic corpus callosumHP:0006989
- EmphysemaHP:0002097
- EpicanthusHP:0000286
- EsotropiaHP:0000565
- ExotropiaHP:0000577
- Facial asymmetryHP:0000324
- Fetal distressHP:0025116
- Frontal bossingHP:0002007
- Full cheeksHP:0000293
- Gastroesophageal refluxHP:0002020
- Gastrointestinal dysmotilityHP:0002579
- GastroparesisHP:0002578
- Gastrostomy tube feeding in infancyHP:0011471
- Generalized non-motor (absence) seizureHP:0002121
- Global brain atrophyHP:0002283
- Hearing impairmentHP:0000365
- HemivertebraeHP:0002937
- Horseshoe kidneyHP:0000085
- Hyperextensibility at elbowHP:0010485
- Hyperextensible hand jointsHP:0005639
- Hypoplasia of the maxillaHP:0000327
- Ischemic strokeHP:0002140
- KyphoscoliosisHP:0002751
- Lateral ventricle dilatationHP:0006956
- Low-set earsHP:0000369
- Lumbar hyperlordosisHP:0002938
- Metopic synostosisHP:0011330
- MyopiaHP:0000545
- Narrow foreheadHP:0000341
- NystagmusHP:0000639
- Optic atrophyHP:0000648
- Optic nerve hypoplasiaHP:0000609
- Patent ductus arteriosus after birth at termHP:0011648
- Periventricular leukomalaciaHP:0006970
- PolymicrogyriaHP:0002126
- Progressive ventriculomegalyHP:0007100
- Progressive visual lossHP:0000529
- Prominent foreheadHP:0011220
- Protruding earHP:0000411
- Recurrent infectionsHP:0002719
- Relative macrocephalyHP:0004482
- Respiratory failureHP:0002878
- Rib fusionHP:0000902
- Sagittal craniosynostosisHP:0004442
- Short noseHP:0003196
- Short philtrumHP:0000322
- Simplified gyral patternHP:0009879
- Slender long boneHP:0003100
- Smooth philtrumHP:0000319
- Soft, doughy skinHP:0001027
- Sparse eyebrowHP:0045075
- SpasticityHP:0001257
- Submucous cleft soft palateHP:0011819
- Thin vermilion borderHP:0000233
- Transient ischemic attackHP:0002326
- Unilateral lung agenesisHP:0030707
- Unilateral renal agenesisHP:0000122
- Wide nasal bridgeHP:0000431