Mutations in TMEM94 gene may cause the following signs and symptoms:
Neurological
- Global developmental delay
- Intellectual disability
- Speech delay
- Motor delay
- Generalized low muscle tone (some patients)
- High muscle tone in the limbs (some patients)
- Brisk reflexes
- Abnormal reflex movements of the foot induced by sudden dorsiflexion
- Learning disability
- Seizures (rare)
- Brain abnormalities detected on MRI (some patients)
Head and Neck
- Abnormally large head (some patients)
- Abnormally small head (rare)
- Distinct facial features, including but not limited to:
- Triangular face
- Short forehead (rare)
- Pointed chin
- Abnormally-shaped ears
- Low-set ears
- Prominent ear lobes
- Posteriorly rotated ears
- Low nasal bridge
- Broad nasal bridge
- Forward-facing nostrils
- Thin upper lip
- Smooth philtrum
- Short philtrum (rare)
- Long philtrum
- Abnormally increased distance between the eyes
- Deep-set eyes
- Upslanted palpebral fissures (the opening between the eyelids)
- Strabismus (cross-eyed)
- Unibrow
- Thick, arched eyebrows
- Webbed neck (having a thick web-like fold of skin on the neck; rare)
- Long eyelashes (some patients)
- Nearsightedness (rare)
- Optic glioma (a slow growing brain tumor that arises on the optic nerve; rare)
Heart
- Patent foramen ovale (a hole between the right and left upper chambers of the heart)
- Patent ductus arteriosus (a connection between the aorta and pulmonary artery)
- Atrial septal defect (an opening in the wall between the right and left upper chambers of the heart)
- Ventricular septal defect (an opening in the wall between the right and left lower chambers of the heart)
- Pulmonary hypoplasia (underdevelopment of the pulmonary artery)
- Pulmonary atresia (abnormal narrowing or closure of the pulmonary artery)
- Tetralogy of Fallot (a combination of four heart abnormalities: ventricular septal defect, pulmonary valve stenosis, misplaced aorta, and thickened right ventricular wall)
- Double outlet right ventricle (the aorta connects to the right ventricle instead of the left ventricle of the heart)
Skeletal
- Abnormal sideway curvature of the spine
- Long fingers and toes
- Overlapping fingers and toes
- Fusion of the skin of the toes
- Large hands (rare)
- Sunken or funnel chest (some patients)
Genitourinary
- Undescended testes
- Hypospadias (opening of the urethra is on the underside of the penis instead of the tip)
- Hypertrichosis (excessive hair growth over the body)
- Late menarche
- Oligomenorrhea (infrequent menstrual periods)
Other
- Upper-range birth weight/height
- Widely spaced nipples
- Recurrent respiratory infections
- Dilation of ascending aorta
- Intraosseous hemangioma (rare benign bone tumors commonly seen in the mid to lower back)
- Intestinal malrotation
- Inguinal hernia
- Omphalocele (birth defect in which the intestines or other abdominal organs are outside of the body cavity)