- Broad alveolar ridges (HP:0000187). Evidence: IEA. (OMIM:218400)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: IEA. (OMIM:218400)
- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: IEA. (OMIM:218400)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:218400)
- Facial hyperostosis (HP:0005465): Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. Evidence: PCS. Frequency: 5/5. (PMID:23951358)
- 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: IEA. (OMIM:218400)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: IEA. (OMIM:218400)
- Abnormal nasopharynx morphology (HP:0001739): A structural anomaly of the nasopharynx. Evidence: IEA. (OMIM:218400)
- Telecanthus (HP:0000506): Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. Evidence: IEA. (OMIM:218400)
- Club-shaped distal femur (HP:0006384): An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. Evidence: IEA. (OMIM:218400)
- Patchy sclerosis of finger phalanx (HP:0009772): Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. Evidence: IEA. (OMIM:218400)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: PCS. Frequency: 5/5. (PMID:23951358)
- 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: PCS. (PMID:23951358)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: IEA. (OMIM:218400)
- Bony paranasal bossing (HP:0004407). Evidence: IEA. (OMIM:218400)
- Nasal congestion (HP:0001742): Reduced ability to pass air through the nasal cavity often leading to mouth breathing. Evidence: IEA. (OMIM:218400)
- Delayed eruption of permanent teeth (HP:0000696): Delayed tooth eruption affecting the secondary dentition. Evidence: IEA. (OMIM:218400)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: IEA. (OMIM:218400)
- Mixed hearing impairment (HP:0000410): A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. Evidence: IEA. (OMIM:218400)
- Abnormal thorax morphology (HP:0000765): Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). Evidence: IEA. (OMIM:218400)
- 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: PCS. Frequency: 0/5. (PMID:23951358)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: IEA. (OMIM:218400)
- Depressed nasal ridge (HP:0000457): Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. Evidence: PCS. Frequency: 5/5. (PMID:23951358)
These phenotypes are associated with the disease craniometaphyseal dysplasia, autosomal recessive (OMIM:218400).