Mosaic trisomy 1 syndrome

ORPHA:1692 · Malformation syndrome · Disorder

HPO 表現型（共 60 項）

Occasional (29-5%)(60)

2-3 finger cutaneous syndactylyHP:0001233
Abnormal pinna morphologyHP:0000377
Absent distal interphalangeal creasesHP:0001032
Agenesis of corpus callosumHP:0001274
ArachnodactylyHP:0001166
Broad 2nd toeHP:0100040
Broad toeHP:0001837
Camptodactyly of fingerHP:0100490
Cerebellar hypoplasiaHP:0001321
Cerebellar vermis hypoplasiaHP:0001320
Cleft palateHP:0000175
Coarctation of aortaHP:0001680
Coarse facial featuresHP:0000280
Complete duplication of thumb phalanxHP:0009943
Congenital bilateral ptosisHP:0007911
Congenital diaphragmatic herniaHP:0000776
Depressed nasal bridgeHP:0005280
Deviation of the 5th toeHP:0010344
Downslanted palpebral fissuresHP:0000494
Elbow flexion contractureHP:0002987
Enlarged cisterna magnaHP:0002280
Facial asymmetryHP:0000324
Finger clinodactylyHP:0040019
Frontal bossingHP:0002007
Hand clenchingHP:0001188
Hepatic agenesisHP:0100839
Hypoplastic thumbnailHP:0012553
Increased nuchal translucencyHP:0010880
Knee joint hypermobilityHP:0045086
Lateral ventricle dilatationHP:0006956
Long toeHP:0010511
Low-set earsHP:0000369
MacrocephalyHP:0000256
MicropenisHP:0000054
MicrophthalmiaHP:0000568
MicroretrognathiaHP:0000308
Moderate intellectual disabilityHP:0002342
OmphaloceleHP:0001539
Opacification of the corneal stromaHP:0007759
Orofacial cleftHP:0000202
Penile hypospadiasHP:0003244
PolyhydramniosHP:0001561
PolymicrogyriaHP:0002126
Posterior fossa cystHP:0007291
Pulmonary artery atresiaHP:0004935
Pulmonary hypoplasiaHP:0002089
Renal cortical cystsHP:0000803
Renal cystHP:0000107
Rocker bottom footHP:0001838
Short upper lipHP:0000188
Single transverse palmar creaseHP:0000954
Single umbilical arteryHP:0001195
Small anterior fontanelleHP:0000237
Small nailHP:0001792
Thick lower lip vermilionHP:0000179
Thoracic scoliosisHP:0002943
Toe syndactylyHP:0001770
Ventricular septal defectHP:0001629
Wide mouthHP:0000154
Wide nasal bridgeHP:0000431