open-bite malocclusion Question mark ear Abnormality of the temporomandibular joint Hypoplasia of first ribs Mandibular condyle hypoplasia Cleft at the superior portion of the pinna Mandibular condyle aplasia Postauricular skin tag Overfolding of the [mendelian.co]

contracture Congenital hip dislocation Abnormal vertebral morphology Skeletal muscle atrophy Respiratory insufficiency Short phalanx of finger Intellectual disability, mild Abnormality of the rib cage Hypoplastic superior helix Generalized amyotrophy [mendelian.co]

shoulders Cutaneous finger syndactyly Muscle weakness Overlapping toe Cognitive impairment Respiratory insufficiency due to muscle weakness Dysarthria Lumbar hyperlordosis Pterygium Decreased muscle mass Knee flexion contracture Congenital hip dislocation [mendelian.co]

Diffuse Muscle Wasting: Note loss muscle bulk in left hand due to peripheral denervation. In particular, compare left and right thenar eminences. [meded.ucsd.edu]

eyebrow Cupped ear Macrocytic anemia Mixed hearing impairment Broad neck Granulocytopenia Holoprosencephaly Adrenal hypoplasia Finger syndactyly Short palpebral fissure Depressed nasal bridge Intellectual disability, severe Dystonia Prominent forehead [mendelian.co]

fullness Skull asymmetry X-linked recessive inheritance Clinodactyly Conductive hearing impairment Nephrotic syndrome Delayed myelination Broad forehead Synophrys Flat face Delayed eruption of teeth Esotropia Renal dysplasia Nephrocalcinosis Calcinosis [mendelian.co]

retardation, poor overall growth, and dysmorphic facial features. [mendelian.co]

face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. [mendelian.co]

speech and language development Absent speech Retrognathia Macrocephaly Narrow mouth Rare Symptoms - Less than 30% cases Failure to thrive Autosomal recessive inheritance Posteriorly rotated ears Dental crowding Long philtrum Round face Myopathy Facial [mendelian.co]

hypotonia Dyspnea Thoracolumbar scoliosis Triangular face Difficulty walking Limitation of joint mobility Distal muscle weakness Long face Waddling gait Single transverse palmar crease Abnormality of skin pigmentation Generalized muscle weakness Progressive [mendelian.co]

sign Ophthalmoparesis Bilateral ptosis Difficulty climbing stairs Congenital contracture Long fingers Centrally nucleated skeletal muscle fibers Hip contracture Onset Difficulty running Abnormal heart valve morphology Exertional dyspnea Facial diplegia [mendelian.co]