| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
12 MO |
| Sex |
Male |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ITALY |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
CHAMP1, C.1169C>G (P.TRP390TER), NONSENSE (DE NOVO) |
| Zygosity: |
Heterozygous |
| Other variants: |
GALT, C.855G>T (P.LYS285ASN), MISSENSE, HETEROZYGOUS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
AT BIRTH |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Microcephaly
|
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
MODE |
| Optical and Audiological Symptoms |
| |
Defective vision
Deafness
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
PSYCHOMOTOR DELAY |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Physical therapy
|
| Medications |
| Family History |
| |
GALT VARIANT INHERITED FROM MOTHER |
| Remarks |
Clinically affected; unaffected father GM28630; unaffected Mother GM28631; same subject as GM28396 (lymph). Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is Sendai-CytoTune |