- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: PCS. Frequency: 1/1. (PMID:28403827)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: PCS. Frequency: 4/4. (PMID:28403827;PMID:23063621)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: PCS. Frequency: 0/6. (PMID:28403827;PMID:23063621)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 6/6. (PMID:28403827;PMID:23063621)
- Small nail (HP:0001792): A nail that is diminished in length and width, i.e., underdeveloped nail. Evidence: PCS. Frequency: 3/3. (PMID:23063621)
- Absent hair (HP:0002298). Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:23315978)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: PCS. Frequency: 2/6. (PMID:28403827;PMID:23063621)
- Abnormal sebaceous gland morphology (HP:0032226): Any structural anomaly of the sebaceous glands. Evidence: PCS. Frequency: 0/3. (PMID:23063621)
- Unilateral cryptorchidism (HP:0012741): Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: PCS. Frequency: 2/5. (PMID:28403827;PMID:23063621)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: TAS. (OMIM:614931)
- Onycholysis of fingernails (HP:0040039). Evidence: PCS. Frequency: 2/6. (PMID:28403827;PMID:23063621)
- Atrichia (HP:0500262): The most dramatic and severe form of hair loss characterized by an absence of hair follicles. Evidence: PCS. Frequency: 6/6. (PMID:28403827;PMID:23063621)
- Abnormality of the skeletal system (HP:0000924): An abnormality of the skeletal system. Evidence: PCS. Frequency: 0/3. (PMID:23063621)
- Ectodermal dysplasia (HP:0000968): Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. Evidence: PCS. Frequency: 3/3. (PMID:23063621)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: PCS. Frequency: 0/3. (PMID:23063621)
- 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:23063621)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 3/3. (PMID:23063621)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577). (PMID:23315978)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: PCS. Frequency: 3/3. (PMID:28403827)
- Abnormal sweat gland morphology (HP:0000971): Any structural abnormality of the sweat gland. Evidence: PCS. Frequency: 0/3. (PMID:23063621)
- Concave nail (HP:0001598): The natural longitudinal (posterodistal) convex arch is not present or is inverted. Evidence: TAS. (PMID:23315978)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: IEA. Frequency: 0/3. (PMID:23063621)
These phenotypes are associated with the disease ectodermal dysplasia 9, hair/nail type (OMIM:614931).