- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: IEA. (OMIM:106260)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 1/1. (PMID:15200513)
- Hyperconvex nail (HP:0001795): When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. Evidence: IEA. (OMIM:106260)
- Selective tooth agenesis (HP:0001592): Agenesis specifically affecting one of the classes incisor, premolar, or molar. Evidence: IEA. (OMIM:106260)
- Cleft lip (HP:0410030): A gap in the lip or lips. Evidence: PCS. Frequency: 1/3. (PMID:14684701)
- Ventricular septal defect (HP:0001629): A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. Evidence: IEA. (OMIM:106260)
- Hyperpigmentation of the skin (HP:0000953): A darkening of the skin related to an increase in melanin production and deposition. Evidence: IEA. (OMIM:106260)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: IEA. (OMIM:106260)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: IEA. (OMIM:106260)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: IEA. (OMIM:106260)
- Blepharitis (HP:0000498): Inflammation of the eyelids. Evidence: IEA. (OMIM:106260)
- 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: 0/3. (PMID:14684701)
- Atresia of the external auditory canal (HP:0000413): Absence or failure to form of the external auditory canal. Evidence: IEA. (OMIM:106260)
- Conical tooth (HP:0000698): An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. Evidence: IEA. (OMIM:106260)
- Micropenis (HP:0000054): Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. Evidence: IEA. (OMIM:106260)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: PCS. Frequency: 2/4. (PMID:14684701;PMID:15200513)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: IEA. (OMIM:106260)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: IEA. (OMIM:106260)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: PCS. Frequency: 3/3. (PMID:14684701)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: PCS. Frequency: 3/3. (PMID:14684701)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: IEA. (OMIM:106260)
- Nasogastric tube feeding in infancy (HP:0011470): Feeding problem necessitating nasogastric tube feeding. Evidence: PCS. Frequency: 7/12. (PMID:19353643)
- 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: 1/1. (PMID:15200513)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: IEA. (OMIM:106260)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: IEA. (OMIM:106260)
- Vaginal dryness (HP:0031088): Persistent vaginal dryness. Evidence: TAS. (OMIM:106260)
- 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:106260)
- Hypodontia (HP:0000668): The absence of five or less teeth from the normal series by a failure to develop. Evidence: IEA. (OMIM:106260)
- Ankyloblepharon (HP:0009755): Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. Evidence: PCS. Frequency: 14/16. (PMID:14684701;PMID:15200513;PMID:19353643)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: IEA. (OMIM:106260)
- 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:14684701)
- Palmoplantar keratoderma (HP:0000982): Abnormal thickening of the skin of the palms of the hands and the soles of the feet. Evidence: IEA. (OMIM:106260)
- Oval face (HP:0000300): A face with a rounded and slightly elongated outline. Evidence: IEA. (OMIM:106260)
- Lacrimal duct atresia (HP:0000564): A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. Evidence: PCS. Frequency: 10/12. (PMID:19353643)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: PCS. Frequency: 6/12. (PMID:19353643)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:10535733)
- Cleft upper lip (HP:0000204): A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. Evidence: PCS. Frequency: 10/12. (PMID:19353643)
- Widely spaced teeth (HP:0000687): Increased spaces (diastemata) between most of the teeth in the same dental arch. Evidence: IEA. (OMIM:106260)
- Bilateral choanal atresia (HP:0004502): Bilateral absence (atresia) of the posterior nasal aperture (choana). Evidence: PCS. Frequency: 1/1. (PMID:15200513)
- Anonychia (HP:0001798): Aplasia of the nail. Evidence: IEA. (OMIM:106260)
- Alacrima (HP:0000522): Absence of tear secretion. Evidence: PCS. Frequency: 3/3. (PMID:14684701)
- Pili torti (HP:0003777): Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. Evidence: PCS. Frequency: 3/3. (PMID:14684701)
These phenotypes are associated with the disease ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (OMIM:106260).