- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. (OMIM:608154)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: IEA. (OMIM:608154)
- Metaphyseal striations (HP:0031367): Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). Evidence: IEA. (OMIM:608154)
- Short femoral neck (HP:0100864): An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: IEA. (OMIM:608154)
- Generalized lipodystrophy (HP:0009064): Generalized degenerative changes of the fat tissue. Evidence: TAS. (OMIM:608154)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:608154)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. (OMIM:608154)
- Sparse facial hair (HP:0007464): Reduced number or density of facial hair. Evidence: TAS. (OMIM:608154)
- Abnormal rib cage morphology (HP:0001547): A morphological anomaly of the rib cage. Evidence: IEA. (OMIM:608154)
- Genu valgum (HP:0002857): The legs angle inward, such that the knees are close together and the ankles far apart. Evidence: TAS. (OMIM:608154)
- Abnormality of carpal bone ossification (HP:0006257). Evidence: IEA. (OMIM:608154)
- 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: IEA. (OMIM:608154)
- Progeroid facial appearance (HP:0005328): A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. Evidence: IEA. (OMIM:608154)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: IEA. (OMIM:608154)
- Sparse axillary hair (HP:0002215): Reduced number or density of axillary hair. Evidence: TAS. (OMIM:608154)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: IEA. (OMIM:608154)
- Slender long bones with narrow diaphyses (HP:0004993): Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. Evidence: IEA. (OMIM:608154)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: IEA. (OMIM:608154)
- Small for gestational age (HP:0001518): Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. Evidence: IEA. (OMIM:608154)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. (OMIM:608154)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: IEA. (OMIM:608154)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:608154)
- Congenital generalized lipodystrophy (HP:0009059). Evidence: IEA. (OMIM:608154)
- Long thorax (HP:0100818): Increased inferior to superior extent of the thorax. Evidence: TAS. (OMIM:608154)
- Cubitus valgus (HP:0002967): Abnormal positioning in which the elbows are turned out. Evidence: IEA. (OMIM:608154)
- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: IEA. (OMIM:608154)
- Slender build (HP:0001533): Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. Evidence: IEA. (OMIM:608154)
These phenotypes are associated with the disease lipodystrophy-intellectual disability-deafness syndrome (OMIM:608154).