| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
DE NOVO PATHOGENIC VARIANT IN EXON 3 OF THE CHAMP1 GENE: C.2127T>G (P.TYR709*). |
| Zygosity: |
Heterozygous |
| Other variants: |
VARIANTS OF UNKNOWN SIGNIFICANCE (VUS): C.2456A>G (P.ASP819GLY) IN CNKSR2 (HEMIZYGOUS, MATERNALLY INHERITED); C.8045+9G>C IN HERC1 (MATERNALLY INHERITED), RS1187530843; C.3512A>G (P.ASN1171SER) IN HUWE1 (HEMIZYGOUS, MATERNALLY INHERITED), RS781988279; C.6146C>T (P.PRO2049LEU) IN KMT2C (MATERNALLY INHERITED), RS776261953 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
2 YEARS; DIAGNOSED BY A GENETICIST |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Additional Information: |
ABNORMALITY OF THE PALPEBRAL FISSURES; BRACHYCEPHALY; PROMINENT EPICANTHAL FOLDS; RETROGNATHIA |
| Neurological Symptoms |
| |
Hypotonia
|
| Additional Information: |
RECCURRENT HAND FLAPPING |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
|
| Additional Information: |
MOTOR DELAY; NEURODEVELOPMENTAL ABNORMALITY; NEURODEVELOPMENTAL DELAY; |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
Communication or learning devices
|
| Additional Testing: |
GLASSES |
| Medications |
| Family History |
| |
PATERNAL (GM27631, LYMPH) AND MATERNAL (GM27632, LYMPH) SAMPLES ANALYZED FOR SEGREGATION ANALYSIS - RESULTS INDICATE THAT THIS INDIVIDUAL HAS A DE NOVO VARIANT. |
| Remarks |
See Phenotypic Data tab. |