← 返回搜尋
Microcephalic cortical malformations-short stature due to RTTN deficiency
ORPHA:468631 · Malformation syndrome · Disorder
HPO 表現型（共 73 項）
Very frequent (99-80%)(2)
- Abnormal facial shapeHP:0001999
- MicrocephalyHP:0000252
Frequent (79-30%)(10)
- Intrauterine growth retardationHP:0001511
- Multiple joint contracturesHP:0002828
- PolymicrogyriaHP:0002126
- Poor speechHP:0002465
- Severe failure to thriveHP:0001525
- Severe global developmental delayHP:0011344
- Severe intellectual disabilityHP:0010864
- Severe short statureHP:0003510
- Sloping foreheadHP:0000340
- VentriculomegalyHP:0002119
Occasional (29-5%)(61)
- 2-5 finger cutaneous syndactylyHP:0005650
- 4-5 finger cutaneous syndactylyHP:0010705
- Abnormal occipital bone morphologyHP:0012294
- Abnormal periventricular white matter morphologyHP:0002518
- Abnormal pyramidal signHP:0007256
- Abnormal renal collecting system morphologyHP:0004742
- Abnormality of the orbital regionHP:0000315
- Agenesis of corpus callosumHP:0001274
- Ankle flexion contractureHP:0006466
- Arachnoid cystHP:0100702
- Attenuation of retinal blood vesselsHP:0007843
- Axial hypotoniaHP:0008936
- Bilateral microphthalmosHP:0007633
- Bilateral sensorineural hearing impairmentHP:0008619
- Camptodactyly of fingerHP:0100490
- Cerebellar atrophyHP:0001272
- Cerebellar hypoplasiaHP:0001321
- Cerebral atrophyHP:0002059
- Cerebral hypoplasiaHP:0006872
- Cortical dysplasiaHP:0002539
- CraniosynostosisHP:0001363
- CryptorchidismHP:0000028
- Duodenal atresiaHP:0002247
- DysarthriaHP:0001260
- Eczematoid dermatitisHP:0000964
- Hyperkinetic movementsHP:0002487
- HypertoniaHP:0001276
- Hypoplasia of the corpus callosumHP:0002079
- Hypoplasia of the frontal lobesHP:0007333
- Hypoplasia of the ponsHP:0012110
- HypospadiasHP:0000047
- HypotelorismHP:0000601
- Knee flexion contractureHP:0006380
- LissencephalyHP:0001339
- Lobar holoprosencephalyHP:0006870
- MicrophallusHP:0030260
- MicroretrognathiaHP:0000308
- Motor stereotypyHP:0000733
- Narrow mouthHP:0000160
- Olivopontocerebellar hypoplasiaHP:0006955
- Optic disc pallorHP:0000543
- Optic nerve hypoplasiaHP:0000609
- PachygyriaHP:0001302
- Pelvic kidneyHP:0000125
- Periventricular heterotopiaHP:0007165
- Posteriorly rotated earsHP:0000358
- Prominent metopic ridgeHP:0005487
- Prominent nasal bridgeHP:0000426
- ProptosisHP:0000520
- RetrognathiaHP:0000278
- Sacrococcygeal pilonidal abnormalityHP:0010767
- SeizureHP:0001250
- Self-injurious behaviorHP:0100716
- Simplified gyral patternHP:0009879
- Sleep disturbanceHP:0002360
- Smooth philtrumHP:0000319
- SpasticityHP:0001257
- Thin ear helixHP:0009905
- Unilateral renal agenesisHP:0000122
- Upslanted palpebral fissureHP:0000582
- Wide nasal bridgeHP:0000431