Phenotypes associated with the disease syndromic X-linked intellectual disability Nascimento type (OMIM:300860):
- Poor speech (HP:0002465). Evidence: PCS. Frequency: 1/3. (PMID:16909393)
- Increased body weight (HP:0004324): Abnormally increased body weight. Evidence: PCS. Frequency: 1/5. (PMID:20412111)
- Upslanted palpebral fissure (HP:0000582): The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. Evidence: PCS. Frequency: 3/8. (PMID:16909393;PMID:20412111)
- Echolalia (HP:0010529): Echolalia is the automatic imitative repetition of sounds, words, or phrases in the absence of explicit awareness. The repeated words or phrases are typically odd or used in a non-social manner. These can be words or phrases that the affected individual has heard or invented. Evidence: PCS. Frequency: 3/5. (PMID:20412111)
- Short foot (HP:0001773): A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). Evidence: PCS. Frequency: 3/3. (PMID:16909393)
- 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: PCS. Frequency: 6/8. (PMID:16909393;PMID:20412111)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: PCS. Frequency: 6/8. (PMID:16909393;PMID:20412111)
- Broad face (HP:0000283): Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). Evidence: PCS. Frequency: 2/3. (PMID:16909393)
- Horseshoe kidney (HP:0000085): A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. Evidence: PCS. Frequency: 1/5. (PMID:20412111)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 5/5. (PMID:20412111)
- Spotty hypopigmentation (HP:0005590). Evidence: PCS. Frequency: 2/5. (PMID:20412111)
- Abnormal hair whorl (HP:0010721): An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). Evidence: PCS. Frequency: 6/8. (PMID:16909393;PMID:20412111)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 3/3. (PMID:16909393)
- Broad hallux (HP:0010055): Visible increase in width of the hallux without an increase in the dorso-ventral dimension. Evidence: PCS. Frequency: 5/5. (PMID:20412111)
- Aggressive behavior (HP:0000718): Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires). Evidence: PCS. Frequency: 2/5. (PMID:20412111)
- 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: 1/8. (PMID:16909393;PMID:20412111)
- Hypointensity of cerebral white matter on MRI (HP:0007103): A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. Evidence: PCS. Frequency: 2/2. (PMID:16909393)
- Downturned corners of mouth (HP:0002714): A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. Evidence: PCS. Frequency: 3/3. (PMID:16909393)
- Wide intermamillary distance (HP:0006610): A larger than usual distance between the left and right nipple. Evidence: PCS. Frequency: 7/8. (PMID:16909393;PMID:20412111)
- 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: PCS. Frequency: 1/5. (PMID:20412111)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: PCS. Frequency: 3/3. (PMID:16909393)
- Hirsutism (HP:0001007): Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). Evidence: PCS. Frequency: 7/8. (PMID:16909393;PMID:20412111)
- 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: 4/4. (PMID:20412111)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 5/5. (PMID:20412111)
- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: PCS. Frequency: 7/8. (PMID:16909393;PMID:20412111)
- 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: PCS. Frequency: 7/8. (PMID:16909393;PMID:20412111)
- Broad neck (HP:0000475): Increased side-to-side width of the neck. Evidence: PCS. Frequency: 3/3. (PMID:16909393)
- Thin vermilion border (HP:0000233): Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). Evidence: PCS. Frequency: 3/3. (PMID:16909393)
- Absent speech (HP:0001344): Complete lack of development of speech and language abilities. Evidence: PCS. Frequency: 3/8. (PMID:16909393;PMID:20412111)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 5/5. (PMID:20412111)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 5/5. (PMID:20412111)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: PCS. Frequency: 2/3. (PMID:16909393)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: PCS. Frequency: 6/8. (PMID:16909393;PMID:20412111)
- 2-3 toe syndactyly (HP:0004691): Syndactyly with fusion of toes two and three. Evidence: PCS. Frequency: 1/5. (PMID:20412111)
- Midface retrusion (HP:0011800): Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. Evidence: PCS. Frequency: 2/3. (PMID:16909393)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: PCS. Frequency: 3/8. (PMID:16909393;PMID:20412111)
- X-linked recessive inheritance (HP:0001419): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:16909393)
- Self-injurious behavior (HP:0100716): Self-aggression. Evidence: PCS. Frequency: 2/5. (PMID:20412111)
- Almond-shaped palpebral fissure (HP:0007874): A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. Evidence: PCS. Frequency: 5/5. (PMID:20412111)
- 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: 4/8. (PMID:16909393;PMID:20412111)
- Synophrys (HP:0000664): Meeting of the medial eyebrows in the midline. Evidence: PCS. Frequency: 8/8. (PMID:16909393;PMID:20412111)