| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
18 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
0 NB |
| Age at Diagnosis(If not a control) |
17 |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
CZECH REPUBLIC |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
GENETIC TESTING REVEALED A DE NOVO PATHOGENIC VARIANT IN THE MBD5 GENE, 2Q23.1 MICRODELETION SYNDROME
ARR[GRCH37]2Q22.3Q23.3(145958505_150963433)X1 |
| Other variants: |
GENETIC TESTING REVEALED A VARIANT OF UNCERTAIN SIGNIFICANCE IN THE OCRL GENE, C.1850C>T. |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
17 YEARS OLD |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Caesarian section
|
| Dysmorphic Features |
| |
Strabismus
Microcephaly
|
| Additional Information: |
SHORT STATURE, ELONGATED FACE, SYNOPHRYS,UPWARD-SLANTING PALPEBRAL FISSURES, LOW SET EARS, CRYPTORCHIDISM, MICRO PENIS |
| Neurological Symptoms |
| |
Cerebral palsy
|
| Additional Information: |
AGENESIS OF THE CORPUS CALLOSUM AND FORNIX, ARACHNOID CYST, CEREBRAL ATROPHY |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
Scoliosis
|
| Developmental Milestones |
| |
Global developmental delay
Abnormal height for age
|
| Additional Information: |
NONVERBAL |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
Cryptorchidism
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Intellectual Disability: |
Severe |
| Additional Information |
| Testing Performed |
| Uncategorized Testing: |
NORMAL KARYOTYPE |
| Treatments and Assistive Devices |
| |
|
| Surgeries |
BILATERAL STRABISMUS SURGERY, R&L ORCHIDOPEXY, EXCISION OF L TESTICULAR TUNICS, SURGERY OF THE RIGHT CALCANEUS |
| Medications |
| Family History |
| Remarks |
See "Phenotypic Data" tab. |