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Disease Comparison Results (show differences mode) for Chorea, hereditary benign (14q13) and Abducted thumbs syndrome

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Found: 82 | Differences: 77

Found: 22 | Differences: 17

Chorea, hereditary benign (14q13) and Abducted thumbs syndrome sharing 5 common findings. (show all, show common, show differences)

Clinical Manifestations
Signs & Symptoms: Contractures Fingers/Toes; Hyperextensable Joints Infant; Particular physiognomy/Odd looking kids; Craniofacial Abnormalities/Congenital; Facial Asymmetry; Hirsutism; Hypertrichosis; Bifid uvula; High arched palate; Tongue Protrudes Infant; Uvula anomaly/deformity; Abducted thumbs; Camptoldactyly; Delay Sitting Unsupported Infant; Hypotonia; Mouth Hangs Open Infant; Muscles Soft/Doughy Infant; Rolling Over Delay Infant; Babkin infant sign/Abnormal; Delayed walking milestone/child; Development Motor Skills (Milestones) Delayed; Galant Infant reflex/Abnormal; Head Neck Floppy Infant Hypotonia Sign; Infant Head Support Delay; Mental Deficiency Child; Moro reflex Poor/Absent Infant; Palmar Grasp infant Reflex Abnormal; Primitive infant reflexes/Abnormal; Prominent occiput/infant; Rooting infant sign/Abnormal; Seizures; Swimming infant reflex/Abnormal; Tonic Neck Infant reflex/Abnormal; Shallow Breathing Infant; Asymmetric Limbs; Bathrocephaly; Joint/limit range of motion; Sternum deformities; Lateral Asymmetry; Downward sloping eyes/Antimongoloid slant; Low set/odd position ears
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)

Demographics & Risk Factors
Ethnic or Racial Factors: Amish population
Population Group: Population/Pediatrics population
Sex & Age Groups: Population/Children/all

Diagnostic Test Results
CT Scan: MRI/Head Brain Abnormal; MRI/Head White matter lesions

Associated Diseases & Rule outs
Associated Disease & Complications: Abducted thumbs syndrome; Arthrogryposis, multiplex, congenita; Cleft Lip; Cleft lip/deformity; Cleft palate/deformity; Craniosynostosis; Ear deformities/congenital; Hypertelorism/Wide Spaced Eyes; Mental retardation; Microcephaly/oligophrenia; Multiple Congenital Anomalies; Multiple congenital anomalies/Mental retardation; Neonatal Hypotonia/Floppy Baby Syndrome; Ophthalmoplegia; Pectus excavatum; Talipes varus deformity; Torticollis, congenital; Torticollis; Hand anomalies

Disease Mechanism & Classification
Class: CLASS/Jablonski/NIH Archive Anomalies Database
Pathophysiology: Pathophysiology/Asymmetric deformities
Process: PROCESS/Autosomal recessive disorder (ex); PROCESS/INCIDENCE/Extremely rare disease; PROCESS/INCIDENCE/Rare disease (ex); PROCESS/Multiple dysmorphic syndrome (ex); PROCESS/Dystostosis/craniofacial (ex)

Synonyms
Synonym: Synonym/Christian-Andrews-Conneally-Muller syndrome; Synonym/Craniosynostosis-arthrogryposis-cleft palate syn

Clinical Manifestations
Signs & Symptoms: Abnormal movements/involuntary; Athetosis; Chorea signs; Choreoathetosis; Dystonia; Hyperkinetic Movement Disorder; Movement or gait disorder/signs; Tics/sign; Tremor

Associated Diseases & Rule outs
Associated Disease & Complications: Dyskinesia

Disease Mechanism & Classification
Pathophysiology: Pathophysiology/Gene locus 14q13; Pathophysiology/Gene Locus Identified/OMIM database; Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process: PROCESS/Eponymic/Esoteric/Not yet integrated into database; PROCESS/INCIDENCE/Esoteric disease (example); PROCESS/Movement disorder (ex); PROCESS/Hyperkinetic Movement disorders

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