Orofaciodigital syndrome 16
- Synonyms
- OFDS XVI; ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVI; OROFACIODIGITAL SYNDROME XVI
Available tests
Clinical tests (17 available)
Genes See tests for all associated and related genes
Also known as: GRVS638, JBTS29, MKS13, PRO1268, TMEM107
Summary: transmembrane protein 107
Clinical features
Help- Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- 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
- Depressed nasal bridge
- Abnormality of limbs
- Postaxial foot polydactyly
Postaxial foot polydactyly
- MedGen UID: 384489
- Concept ID: C2112129
- Finding: Finding
Abnormality of limbs
- Postaxial hand polydactyly
Postaxial hand polydactyly
- MedGen UID: 609221
- Concept ID: C0431904
- Finding: Congenital Abnormality
Abnormality of limbs
- Postaxial foot polydactyly
- Abnormality of the digestive system
- Hamartoma of tongue
Hamartoma of tongue
- MedGen UID: 98465
- Concept ID: C0431565
- Finding: Finding
Abnormality of the digestive system
- Hamartoma of tongue
- Abnormality of the eye
- Ptosis
Ptosis
- MedGen UID: 2287
- Concept ID: C0005745
- Finding: Disease or Syndrome
Abnormality of the eye
- Retinal disorder
Retinal disorder
- MedGen UID: 11209
- Concept ID: C0035309
- Finding: Disease or Syndrome
Abnormality of the eye
- Ptosis
- Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Inguinal hernia
Inguinal hernia
- MedGen UID: 6817
- Concept ID: C0019294
- Finding: Finding
Abnormality of the musculoskeletal system
- Retrognathia
Retrognathia
- MedGen UID: 19766
- Concept ID: C0035353
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypotonia
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
Abnormality of the nervous system
- Gray matter heterotopia
Gray matter heterotopia
- MedGen UID: 452349
- Concept ID: C0266491
- Finding: Finding
Abnormality of the nervous system
- Inability to walk
Inability to walk
- MedGen UID: 107860
- Concept ID: C0560046
- Finding: Finding
Abnormality of the nervous system
- Intellectual disability, severe
Intellectual disability, severe
- MedGen UID: 48638
- Concept ID: C0036857
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Molar tooth sign on MRI
Molar tooth sign on MRI
- MedGen UID: 400670
- Concept ID: C1865060
- Finding: Finding
Abnormality of the nervous system
- Motor delay
Motor delay
- MedGen UID: 381392
- Concept ID: C1854301
- Finding: Finding
Abnormality of the nervous system
- Oculomotor apraxia
Oculomotor apraxia
- MedGen UID: 483686
- Concept ID: C3489733
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cerebellar ataxia
- Abnormality of the respiratory system
- Apnea
Apnea
- MedGen UID: 2009
- Concept ID: C0003578
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Apnea
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
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