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Maternal uniparental disomy of chromosome 1 syndrome
ORPHA:251009 · Malformation syndrome · Disorder
HPO 表現型（共 29 項）
Frequent (79-30%)(29)
- Abnormal blistering of the skinHP:0008066
- Abnormal limb bone morphologyHP:0002813
- AtaxiaHP:0001251
- AutismHP:0000717
- CataractHP:0000518
- Delayed closure of the anterior fontanelleHP:0001476
- Downturned corners of mouthHP:0002714
- Epiphyseal stipplingHP:0010655
- Failure to thriveHP:0001508
- Feeding difficultiesHP:0011968
- Gastroesophageal refluxHP:0002020
- Growth delayHP:0001510
- Hearing impairmentHP:0000365
- HepatomegalyHP:0002240
- Neonatal hypotoniaHP:0001319
- NystagmusHP:0000639
- PancytopeniaHP:0001876
- PanhypogammaglobulinemiaHP:0003139
- Progressive psychomotor deteriorationHP:0007272
- Progressive spasticityHP:0002191
- Recurrent infectionsHP:0002719
- SeizureHP:0001250
- Short statureHP:0004322
- Single transverse palmar creaseHP:0000954
- Smooth philtrumHP:0000319
- TalipesHP:0001883
- Type I diabetes mellitusHP:0100651
- Uplifted earlobeHP:0009909
- VentriculomegalyHP:0002119