| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
15 MO |
| Sex |
Female |
| Age of Onset(If not a control) |
6 WK |
| Age at Diagnosis(If not a control) |
7 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
More than one race |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GMPPA GENE, C.874 A>C, P.(THR292PRO), EXON 10
GMPPA GENE, C.952 C>T, P.(ARG318TRP), EXON 11 |
| Zygosity: |
Compound Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 WEEKS |
| Age at Diagnosis: |
7 MONTHS |
| In Utero History Information |
| |
Advanced maternal age
|
| Birth History Information |
| |
Caesarian section
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Hypotonia
|
| Optical and Audiological Symptoms |
| |
Pupil abnormality
Alacrima
|
| Additional Information: |
ASYMMETRIC PUPIL
SLUGGISH REACTION TO LIGHT |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
TORTICOLLIS
HYPERFLEXIBLE EXTREMITIES
ABNORMAL EXTENSION OF FINGERS AT TIMES |
| Developmental Milestones |
| |
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
|
| Holding Head Up Without Assistance: |
Achieved and maintained |
| Sitting Without Assistance: |
Achieved and maintained |
| Additional Information: |
PULLING TO STAND |
| Gastrointestinal Symptoms |
| |
Eating difficulties
|
| Additional Information: |
GASTROSTOMY TUBE, ACHALASIA |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
ALACRIMA |
| Testing Performed |
| Respiratory and Cardiovascular Testing: |
EKG TESTING: NORMAL |
| Metabolic, Hematologic, and Endocrinologic Testing: |
MILD HYPERLIPIDEMIA |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Surgeries |
GASTRONOMY TUBE AT 3 MONTHS
HELLER MYOTOMY (NO WRAP) AT 8 MONTHS |
| Medications |
| |
ACETYLGLUCOSAMINE,
HYDROCORTISONE,
LANSOPRAZOLE,
OMEPRAZOLE,
TRIAMCINOLONE
DIET RESTRICTION TO AVOID MANNOSE (CRANBERRY) |
| Family History |
| Remarks |
Clinically affected. See Phenotypic Data tab. Unaffected mother GM28879 (LCL)/GM28880 (fibro) and Unaffected father GM28881 (LCL)/ GM28882 (fibro); LCL is GM28878. |