- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:239)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:239)
- Spondyloepimetaphyseal dysplasia (HP:0002651). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:239)
- Disproportionate short-trunk short stature (HP:0003521): A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:239)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Broad ribs (HP:0000885): Increased width of ribs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Abnormality of the vertebral column (HP:0000925): Any abnormality of the vertebral column. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Hypoplastic ilia (HP:0000946): Underdevelopment of the ilium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Epiphyseal dysplasia (HP:0002656). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Short long bone (HP:0003026): One or more abnormally short long bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Wide pubic symphysis (HP:0003183): Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Abnormal hip bone morphology (HP:0003272): An abnormality of the hip bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Hypoplastic acetabulae (HP:0003274): Underdeveloped acetabulae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Abnormal femoral head morphology (HP:0003368): An abnormality of the femoral head. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Limb muscle weakness (HP:0003690): Reduced strength and weakness of the muscles of the arms and legs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Beaking of vertebral bodies (HP:0004568): Anterior tongue-like protrusions of the vertebral bodies. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Abnormality of the vertebral endplates (HP:0005106): Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral disks. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Iliac crest serration (HP:0008786): Irregularities of the iliac crest that produce the appearance of a lace border around it. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Rhizomelia (HP:0008905): Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Short thorax (HP:0010306): Reduced inferior to superior extent of the thorax. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Horizontal inferior border of scapula (HP:0031233): A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Abnormal pelvis bone morphology (HP:0040163). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Spastic tetraparesis (HP:0001285): Spastic weakness affecting all four limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Limited elbow extension (HP:0001377): Limited ability to straighten the arm at the elbow joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Protuberant abdomen (HP:0001538): A thrusting or bulging out of the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Frequent falls (HP:0002359). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Poor speech (HP:0002465). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Inability to walk (HP:0002540): Incapability to ambulate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Respiratory insufficiency due to muscle weakness (HP:0002747). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Recurrent upper respiratory tract infections (HP:0002788): An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Coxa vara (HP:0002812): Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Abnormality of the ankle (HP:0003028): An anomaly of the joint that connects the foot with the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Limited knee extension (HP:0003066): Reduced ability to extend (straighten) the knee joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Hypoplasia of the odontoid process (HP:0003311): Developmental hypoplasia of the dens of the axis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Atlantoaxial instability (HP:0003467): Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Difficulty standing (HP:0003698). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Broad carpal bones (HP:0004242). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Glenoid fossa hypoplasia (HP:0006633): Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Diminished ability to concentrate (HP:0031987): The inability to focus or concentrate on a specific task, activity, or object. The subject may find themselves unable to grasp or understand written text and re-reads frequently without understanding. Familiar tasks or activities are severely compromised due to the lack of ability to concentrate. Thinking through multi-step problems is typically very difficult or impossible, leading to avoidance of such activities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:239)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:239)
These phenotypes are associated with the disease Dyggve-Melchior-Clausen disease (ORPHA:239).
The following phenotypes are NOT associated with this disease:
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (ORPHA:239)
- Corneal opacity (HP:0007957): A reduction of corneal clarity. Evidence: TAS. (ORPHA:239)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. (ORPHA:239)