| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
2 YR |
| Sex |
Male |
| 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: |
WHOLE EXOME SEQUENCING REVEALED A DE NOVO VARIANT AT POSITION 18.5292872, IN THE TCF4 GENE, C.959C>T P.(THR320ILE). |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| In Utero History Information |
| |
Advanced maternal age
|
| Additional Information: |
SLIGHTLY INCREASED AMNIOTIC FLUID VOLUME |
| Birth History Information |
| |
|
| Additional Information: |
SLOW TO FEED |
| Dysmorphic Features |
| |
Abnormal hands or feet
|
| Additional Information: |
ROUND FACE, SLIGHTLY FLATTENED SUPRAORBITAL RIDGE, BILATERAL EPICANTHAL FOLDS, BROAD NASAL BRIDGE,CUTANEOUS SYNDACTYLY 3-4 ON LEFT HAND TO JUST BELOW THE FIRST INTERPHALANGEAL JOINT, AND D4 CLINODACTYLY ON RIGHT FOOT. DIMPLE OVERLYING RIGHT ELBOW; CUTIS MARMORATA OF HANDS AND LEGS; NOTED SCISSORING OF LEGS WHEN SUSPENDED UPWARD. |
| Neurological Symptoms |
| |
Ataxia
Hypertonia
Unstable gait
|
| Additional Information: |
UNABLE TO "FIX" DURING NEUROLOGICAL EXAM; ABSENT OR SPARSE SPEECH; LIMITED WALKING ABILITY; DELAYED MOTOR DEVELOPMENT AND INCOORDINATION |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
MILD MACULAR HYPOPLASIA,INABILITY TO DEMONSTRATE OPTOKINETIC NYSTAGMUS; INCONCLUSIVE ERG EXAM |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
AXIAL HYPOTONIA AND PERIPHERAL HYPERTONIA; LIMITED WALKING ABILITY |
| Developmental Milestones |
| |
Global developmental delay
|
| Holding Head Up Without Assistance: |
Not achieved and not maintained |
| Sitting Without Assistance: |
Not achieved and not maintained |
| Additional Information: |
HAS NOT DEVELOPED FIXING AND FOLLOWING. IMPROVING HEAD CONTROL. UNABLE TO SUPPORT BODY WEIGHT WHEN IN PRONE POSITION, BUT ABLE TO ARCH BACK AND LIFT HEAD SOME. THERE IS COOING AND NO BABBLING. EXAGGERATED STARTLE REFLEX. A LOT OF ARM MOVEMENT DURING PERIODS OF SLEEP, BUT NO CONCERN FOR SEIZURES. |
| Gastrointestinal Symptoms |
| |
|
| Additional Information: |
LIMITED FOOD INTAKE AND NO CONSTIPATION |
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
Breathing irregularities
|
| Additional Information: |
EPISODES OF APNEIC BREATHING INVOLVING HYPERVENTILATION WITH OR WITHOUT HOLDING BREATH WHILE AWAKE. A SINGLE EPISODE OF APNEA WITH PERI-ORAL CYANOSIS AND REDDENING OF THE FACE BUT QUICKLY RESOLVED TO NORMAL BREATHING - THIS BRUE EVENT WAS CONFIRMED BY NORMAL BLOOD GLUCOSE, HEAD ULTRASOUND, EEG, AND ECG WITH QTC. |
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information |
| Uncategorized Symptoms: |
NEVUS FLAMMEUS BIRTHMARK ON NECK |
| Testing Performed |
| Neurological Testing: |
NORMAL HEAD ULTRASOUND, NORMAL EEG AND NORMAL ECG. |
| Optical and Audiological Testing: |
NORMAL EYE EVALUATION |
| Metabolic, Hematologic, and Endocrinologic Testing: |
SLIGHTLY ELEVATED AMMONIA (41, NORMAL 10-40) AND COPPER 22.1 UMOL/L (NORMAL 3.9-17.3); LOW TSH BUT WAS NORMALIZED; ELEVATED METHYLMALAONATE/CR (13.79, NORMAL <5.44) AND HOMOVANILLATE/CR (17.21, NORMAL <16.97). ABNORMAL URINE ORGANIC ACID AND LOW B12 MEASUREMENT (116 PMOL/L, NORMAL 150-600). |
| Treatments and Assistive Devices |
| |
|
| Medications |
| |
VITAMIN B12 SUPPLEMENTS |
| Family History |
| |
PROBAND HAS OLDER SIBLINGS THAT ARE HEALTHY. PROBAND'S MOTHER HAS A VASCULAR MALFORMATION (MASS) ON LEG; PROBAND'S FATHER HAS RED/GREEN COLOUR BLINDNESS AND POSSIBLE THALASSEMIA TRAIT, PATERNAL GRANDMOTHER IS A THALASSEMIA CARRIER. |
| Remarks |
See "Phenotypic Data" tab. Unaffected father is GM27354. |