Tolchin-Le Caignec syndrome
- Synonyms
- INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND VARIABLE BONE DEFECTS
Summary
Genes See tests for all associated and related genes
Also known as: HSSOX6, SOXD, TOLCAS, SOX6
Summary: SRY-box transcription factor 6
Clinical features
Help- Abnormality of head or neck
- High forehead
High forehead
- MedGen UID: 65991
- Concept ID: C0239676
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Hooded eyelid
Hooded eyelid
- MedGen UID: 478978
- Concept ID: C3277348
- Finding: Finding
Abnormality of head or neck
- Long face
Long face
- MedGen UID: 324419
- Concept ID: C1836047
- Finding: Finding
Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- Finding: Finding
Abnormality of head or neck
- Narrow mouth
Narrow mouth
- MedGen UID: 44435
- Concept ID: C0026034
- Finding: Congenital Abnormality
Abnormality of head or neck
- Nasolacrimal duct obstruction
Nasolacrimal duct obstruction
- MedGen UID: 226915
- Concept ID: C1281931
- Finding: Finding
Abnormality of head or neck
- Prominent nose
Prominent nose
- MedGen UID: 98423
- Concept ID: C0426415
- Finding: Finding
Abnormality of head or neck
- Short palpebral fissure
Short palpebral fissure
- MedGen UID: 98067
- Concept ID: C0423112
- Finding: Finding
Abnormality of head or neck
- Submucous cleft hard palate
Submucous cleft hard palate
- MedGen UID: 98472
- Concept ID: C0432103
- Finding: Congenital Abnormality
Abnormality of head or neck
- Thick eyebrow
Thick eyebrow
- MedGen UID: 377914
- Concept ID: C1853487
- Finding: Finding
Abnormality of head or neck
- Triangular face
Triangular face
- MedGen UID: 324383
- Concept ID: C1835884
- Finding: Finding
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- High forehead
- Abnormality of limbs
- Arachnodactyly
Arachnodactyly
- MedGen UID: 2047
- Concept ID: C0003706
- Finding: Congenital Abnormality
Abnormality of limbs
- Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
- MedGen UID: 340456
- Concept ID: C1850049
- Finding: Congenital Abnormality
Abnormality of limbs
- Arachnodactyly
- Abnormality of the breast
- Inversion of nipple
Inversion of nipple
- MedGen UID: 82844
- Concept ID: C0269269
- Finding: Anatomical Abnormality
Abnormality of the breast
- Inversion of nipple
- Abnormality of the endocrine system
- Precocious puberty
Precocious puberty
- MedGen UID: 18752
- Concept ID: C0034013
- Finding: Disease or Syndrome
Abnormality of the endocrine system
- Precocious puberty
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the immune system
- Food allergy
Food allergy
- MedGen UID: 1635115
- Concept ID: C4554344
- Finding: Disease or Syndrome
Abnormality of the immune system
- Food allergy
- Abnormality of the integument
- Hirsutism
Hirsutism
- MedGen UID: 42461
- Concept ID: C0019572
- Finding: Disease or Syndrome
Abnormality of the integument
- Hirsutism
- Abnormality of the musculoskeletal system
- Diastasis recti
Diastasis recti
- MedGen UID: 113171
- Concept ID: C0221766
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Isolated scaphocephaly
Isolated scaphocephaly
- MedGen UID: 82712
- Concept ID: C0265534
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Osteochondroma
Osteochondroma
- MedGen UID: 10496
- Concept ID: C0029423
- Finding: Neoplastic Process
Abnormality of the musculoskeletal system
- Oxycephaly
Oxycephaly
- MedGen UID: 1634950
- Concept ID: C4551646
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Prominent occiput
Prominent occiput
- MedGen UID: 381255
- Concept ID: C1853737
- Finding: Finding
Abnormality of the musculoskeletal system
- Umbilical hernia
Umbilical hernia
- MedGen UID: 9232
- Concept ID: C0019322
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Diastasis recti
- Abnormality of the nervous system
- Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder
- MedGen UID: 220387
- Concept ID: C1263846
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Autistic behavior
Autistic behavior
- MedGen UID: 163547
- Concept ID: C0856975
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Dysgraphia
Dysgraphia
- MedGen UID: 115942
- Concept ID: C0234144
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- 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
- Attention deficit hyperactivity disorder
- Ear malformation
- Abnormal vestibular function
Abnormal vestibular function
- MedGen UID: 334848
- Concept ID: C1843865
- Finding: Finding
Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Macrotia
Macrotia
- MedGen UID: 488785
- Concept ID: C0152421
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Abnormal vestibular function
- Neoplasm
- Cardiac rhabdomyoma
Cardiac rhabdomyoma
- MedGen UID: 232027
- Concept ID: C1332852
- Finding: Neoplastic Process
Neoplasm
- Cardiac rhabdomyoma
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