| 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 GM29325 (iPSC) |