Spastic paraplegia, intellectual disability, nystagmus, and obesity
- Synonyms
- Spastic paraplegia, intellectual disability, nystagmus, and obesity;
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (20 available)
Genes See tests for all associated and related genes
Also known as: ARMS, SINO, VENARG, KIDINS220
Summary: kinase D interacting substrate 220
Clinical features
Help- Abnormality of head or neck
- Dental crowding
Dental crowding
- MedGen UID: 11850
- Concept ID: C0040433
- Finding: Finding
Abnormality of head or neck
- Full cheeks
Full cheeks
- MedGen UID: 355661
- Concept ID: C1866231
- Finding: Finding
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Short philtrum
Short philtrum
- MedGen UID: 350006
- Concept ID: C1861324
- Finding: Finding
Abnormality of head or neck
- Dental crowding
- Abnormality of limbs
- Limb hypertonia
Limb hypertonia
- MedGen UID: 333083
- Concept ID: C1838391
- Finding: Finding
Abnormality of limbs
- Lower limb hypertonia
Lower limb hypertonia
- MedGen UID: 375612
- Concept ID: C1845245
- Finding: Finding
Abnormality of limbs
- Limb hypertonia
- Abnormality of prenatal development or birth
- Polyhydramnios
Polyhydramnios
- MedGen UID: 6936
- Concept ID: C0020224
- Finding: Pathologic Function
Abnormality of prenatal development or birth
- Polyhydramnios
- Abnormality of the eye
- Astigmatism
Astigmatism
- MedGen UID: 2473
- Concept ID: C0004106
- Finding: Disease or Syndrome
Abnormality of the eye
- Deeply set eye
Deeply set eye
- MedGen UID: 473112
- Concept ID: C0423224
- Finding: Finding
Abnormality of the eye
- Esotropia
Esotropia
- MedGen UID: 4550
- Concept ID: C0014877
- Finding: Disease or Syndrome
Abnormality of the eye
- Hypermetropia
Hypermetropia
- MedGen UID: 43780
- Concept ID: C0020490
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic nerve dysplasia
Optic nerve dysplasia
- MedGen UID: 390938
- Concept ID: C2676026
- Finding: Finding
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Astigmatism
- Abnormality of the musculoskeletal system
- Axial hypotonia
Axial hypotonia
- MedGen UID: 342959
- Concept ID: C1853743
- Finding: Finding
Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Plagiocephaly
Plagiocephaly
- MedGen UID: 78562
- Concept ID: C0265529
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Axial hypotonia
- Abnormality of the nervous system
- Cerebral atrophy
Cerebral atrophy
- MedGen UID: 116012
- Concept ID: C0235946
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Delayed CNS myelination
Delayed CNS myelination
- MedGen UID: 867393
- Concept ID: C4021758
- Finding: Anatomical Abnormality
Abnormality of the nervous system
- Delayed ability to stand
Delayed ability to stand
- MedGen UID: 1370611
- Concept ID: C4476709
- Finding: Finding
Abnormality of the nervous system
- Delayed speech and language development
Delayed speech and language development
- MedGen UID: 105318
- Concept ID: C0454644
- Finding: Finding
Abnormality of the nervous system
- Dilated third ventricle
Dilated third ventricle
- MedGen UID: 870494
- Concept ID: C4024941
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Lateral ventricle dilatation
Lateral ventricle dilatation
- MedGen UID: 383904
- Concept ID: C1856409
- Finding: Pathologic Function
Abnormality of the nervous system
- Partial agenesis of the corpus callosum
Partial agenesis of the corpus callosum
- MedGen UID: 98127
- Concept ID: C0431368
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Spastic gait
Spastic gait
- MedGen UID: 115907
- Concept ID: C0231687
- Finding: Finding
Abnormality of the nervous system
- Spastic paraplegia
Spastic paraplegia
- MedGen UID: 20882
- Concept ID: C0037772
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Tip-toe gait
Tip-toe gait
- MedGen UID: 98104
- Concept ID: C0427144
- Finding: Finding
Abnormality of the nervous system
- Cerebral atrophy
- Growth abnormality
- Obesity
Obesity
- MedGen UID: 18127
- Concept ID: C0028754
- Finding: Disease or Syndrome
Growth abnormality
- Obesity
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