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Microphthalmia with limb anomalies
ORPHA:1106 · Malformation syndrome · Disorder
HPO 表現型（共 57 項）
Very frequent (99-80%)(15)
- Abnormal eyebrow morphologyHP:0000534
- Abnormal metacarpal morphologyHP:0005916
- Abnormality of the lower limbHP:0002814
- Abnormality of the upper limbHP:0002817
- BlepharophimosisHP:0000581
- Finger syndactylyHP:0006101
- Frontal bossingHP:0002007
- Hypoplasia of the maxillaHP:0000327
- MicrophthalmiaHP:0000568
- Prominent foreheadHP:0011220
- Sandal gapHP:0001852
- Synostosis of carpal bonesHP:0005048
- Synostosis of jointsHP:0100240
- Toe syndactylyHP:0001770
- True anophthalmiaHP:0011478
Frequent (79-30%)(22)
- Abnormal thumb morphologyHP:0001172
- Abnormal vertebral body morphologyHP:0003312
- Bilateral single transverse palmar creasesHP:0007598
- Camptodactyly of 2nd-5th fingersHP:0001215
- Cleft upper lipHP:0000204
- Clinodactyly of the 5th fingerHP:0004209
- Depressed nasal bridgeHP:0005280
- Failure to thriveHP:0001508
- Fibular hypoplasiaHP:0003038
- Finger aplasiaHP:0009380
- Foot oligodactylyHP:0001849
- Large earlobeHP:0009748
- Moderate intellectual disabilityHP:0002342
- Optic atrophyHP:0000648
- Postaxial hand polydactylyHP:0001162
- Posteriorly rotated earsHP:0000358
- Severe intellectual disabilityHP:0010864
- Short long boneHP:0003026
- Short statureHP:0004322
- Short tibiaHP:0005736
- Tarsal synostosisHP:0008368
- Tibial bowingHP:0002982
Occasional (29-5%)(20)
- ArrhinencephalyHP:0002139
- Bowing of the long bonesHP:0006487
- Broad thumbHP:0011304
- Cleft palateHP:0000175
- CryptorchidismHP:0000028
- Death in infancyHP:0001522
- Elbow dislocationHP:0003042
- High palateHP:0000218
- Hip dislocationHP:0002827
- Horseshoe kidneyHP:0000085
- HydrocephalusHP:0000238
- Hypoplasia of the premaxillaHP:0010650
- Joint hypermobilityHP:0001382
- Long philtrumHP:0000343
- MacrodontiaHP:0001572
- MicrognathiaHP:0000347
- Postaxial foot polydactylyHP:0001830
- Talipes equinovarusHP:0001762
- Thin vermilion borderHP:0000233
- Venous insufficiencyHP:0005293