Table 3 Phenotype of ASD probands identified in MSSNG, SSC, and other publications containing the SHANK3 p.Ala1227Glyfs*69 variant Thicker lines box individuals from the same family.
From: A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
ID | SEX | ASD | Dysmorphia | Intellectual disability/developmental delay | Other Medical comorbidities | Psychiatric comorbidity | Other Neurological comorbidities | Other Organ anomalies | Language/speech disorder |
|---|---|---|---|---|---|---|---|---|---|
1MSSNG00342-003 | M | Yes | Macrocephaly Mandibular prognathism. Malar flattening | Severe ID | Bipolar disorder | Conductive hearing loss | yes | ||
1MSSNG00342-004 | F | Yes | Macrocephaly Asymmetric facial features (r; Mandibular prognathism; Prominent supraorbital ridge. Abnormal iris pigmentation. Hirsutism. Thick skin texture | Mild ID | Depression with psychotic tendencies, Self-injurious behavior; late regression | yes | |||
11-1047-003 | M | Yes | Severe ID | ADHD | Epilepsy | severe | |||
12-1774-003 | M | Yes | Severe ID | Food sensitivities, G.I. distress, Eczema, Sleep disturbance | Anxiety | Epilepsy Hypotonia, Hypermobility | Severe, with early language loss | ||
17-0572-003 | M | Yes | ID | Lactose intolerance | PICA (compulsive ingestion of inedible matter) | severe | |||
11505221080 | M | Yes | Moderate ID | ADHD | Developmental Coordination Disorder | ||||
2ASD-2 pt1 | M | Yes | large ears and elbow extension limitation | Moderate ID | Neonatal hypotonia | Severe | |||
2ASD-2 pt2 | M | Yes | Macrocephaly by 9 months of age, followed by slow growth | Severe ID | Epilepsy | severe | |||
2S7 | F | Not available | Mild ID | Hypotonia, Visuo-motor deficits | Coronary artery fistula | severe | |||
2S8 | M | Yes | Severe ID | Hypotonia/Dysphagia, Abnormal gait | yes | ||||
2B1 | F | Yes | Preauricular skin tags Finger and toe-tapping MRI: Bilateral T2 hyper-intensities of posterior centrum semiovale | Mild ID | Scoliosis Sleep disturbance | Hyperactivity | Constipation | Mild | |
2AU013503 | F | Yes | Developmental delay | yes | |||||
2AU035703 | F | Yes | Developmental delay | Sleep disturbance | Hyperactivity | Abnormal gait Gastrointestinal complaints | Yes, with regression | ||
114470.p1 | M | Yes | Severe ID | Epilepsy | Severe | ||||
2ASD-685 | M | Yes | ID | ||||||
G01-GEA-71-HI | F | Yes | Data not available | ||||||
SP0051409 | F | Yes | Data not available | ||||||
Farwell - N/A | N/A | Yes | Data not available |
