- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:611943)
- Short stature (HP:0004322, a Human Phenotype Ontology term): 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: PCS. (PMID:17940005)
- Dry skin (HP:0000958, a Human Phenotype Ontology term): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. (OMIM:611943)
- Mild global developmental delay (HP:0011342, a Human Phenotype Ontology term): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: PCS. (PMID:17940005)
- Increased sensitivity to ionizing radiation (HP:0011133, a Human Phenotype Ontology term): An abnormally increased sensitivity to the effects of ionizing radiation. Evidence: PCS. (PMID:17940005)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). Evidence: TAS. (OMIM:611943)
- Abnormal facial shape (HP:0001999, a Human Phenotype Ontology term): An abnormal morphology (form) of the face or its components. Evidence: PCS. (PMID:17940005)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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: PCS. (PMID:19203578)
- Pulmonary fibrosis (HP:0002206, a Human Phenotype Ontology term): Replacement of normal lung tissues by fibroblasts and collagen. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:611943)
- Immunodeficiency (HP:0002721, a Human Phenotype Ontology term): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:17940005)
- Decreased circulating IgG concentration (HP:0004315, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. (PMID:17940005)
These phenotypes are associated with the disease RIDDLE syndrome (OMIM:611943, an entry in Online Mendelian Inheritance in Man).