| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
2 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not 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: |
DDX3X, C.1490_1492DELCTA (P.THR498DEL), DELETION |
| Zygosity: |
Homozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
AT BIRTH |
| Age at Diagnosis: |
2 YEARS |
| In Utero History Information |
| |
Advanced maternal age
|
| Birth History Information |
| |
Difficulty breathing
|
| Dysmorphic Features |
| |
Microcephaly
|
| Additional Information: |
DOLICHOCEPHALIC
FLATTED FACE
RETRO AND MICROGNATHIA |
| Neurological Symptoms |
| |
Corpus callosum abnormalities
Hypotonia
Structural brain anomaly
|
| Additional Information: |
SMALL CEREBRUM
PARTIAL AGENESIS OF CORPUS CALLOSUM
MAL-RORATED HIPPOCAMPI |
| Optical and Audiological Symptoms |
| |
Defective vision
Defective hearing
|
| Additional Information: |
POOR VISUAL MATURATION
DELAYED REACTION TIME
DIMINISHED VISUAL ATTENTION
OTITIS MEDIA WITH BILATERAL EFFUSION AND HEARING LOSS
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Sitting Without Assistance: |
Achieved and maintained |
| Walking Without Assistance: |
Not achieved and not maintained |
| Additional Information: |
STAND WITH SUPPORT |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
GASTROESOPHAGEAL REFLUX DISEASE IN THE FIRST FEW WEEKS POST-BIRTH, NO RECURRENT REFLEX DISEASE |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
MILD IMPAIRMENT IN SOCIAL FUNCTION |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
MRI: MICROCEPHALY, MICROGNATHIA, POORLY FORMED SPLENIUM AND ROSTRUM OF THE CORPUS CALLOSUM |
| Cognitive and Behavioral Testing: |
BAYLEY AT 17 MONTHS:
COGNITIVE RAW SCORE 31, RECEPTIVE LANGUAGE RAW SCORE 11, EXPRESSIVE LANGUAGE RAW SCORE 10, FINE MOTOR RAW SCORE 21, GROSS MOTOR RAW SCORE 28.
COMPOSITE SCORES - COGNITIVE 55, LANGUAGE 62, MOTOR 46
DEVELOPMENTAL QUOTIENT 46 |
| Metabolic, Hematologic, and Endocrinologic Testing: |
TIBC: 536 (H)
LACTATE 6.4 (H)
CA 10.4 (H)
ALKALINE PHOSPHATASE 283 (H)
TOTAL VITAMIN D 19.5 (L)
PYRUVATE 0.184 (H) |
| Uncategorized Testing: |
MICROARRAY: NORMAL 46,XX FEMALE |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
BILATERAL TYMPANOSTOMY TUBE PLACEMENT
VISION THERAPY
INFANT DEVELOPMENT CLASS |
| Medications |
| |
CQ10 |
| Family History |
| Remarks |
Clinically affected; global developmental delay (developmental quotient 46 at 17 months); partial agenesis of corpus callosum; microcephaly; diffuse truncal hypotonia; normal planned pregnancy; delivered vaginally at term; issue immediately post- delivery with respiratory effort; post- birth issues with gaining weight; diagnosed with reflux; failure to meet milestones at six months of age; head shape is both dolichol and microcephalic; flattened face; small ~1-2mm mobile lump in the posterior right neck; small lightly hypopigmented patch on the right abdomen a few inches in diameter just next to the umbilicus; webbed 2nd and 3rd toes; delayed visual maturation; at approximately 6 months: brain imaging revealed dysgenesis of the corpus callosum; evaluation by ENT showed otitis media and bilateral effusions; had bilateral tympanostomy tube placement; 22 months: delayed in gross motor, fine motor and language function with more mild impairment in social function; MRI brain with and without GAD and MRA of the brain and neck showed microcephaly and micrognathia; poorly formed splenium and rostrum of the corpus callosum is seen; developmental age at 17 months was at 8 months; medications: CoQ10 daily; heterozygous de novo mutation in the DDX3X gene c.1490_1492delCTA (p.Thr498del); unaffected mother is GM26669. |