- Abnormality of the uterus (HP:0000130): An abnormality of the uterus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Abnormality of the eye (HP:0000478): Any abnormality of the eye, including location, spacing, and intraocular abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Abnormality of vision (HP:0000504): Abnormality of eyesight (visual perception). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59315)
- Ataxia (HP:0001251): 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. Frequency: Frequent (HP:0040282). (ORPHA:59315)
- Abnormality of the cardiovascular system (HP:0001626): Any abnormality of the cardiovascular system. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Esophageal atresia (HP:0002032): A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Aganglionic megacolon (HP:0002251): An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Agenesis of cerebellar vermis (HP:0002335): Congenital absence of the vermis of cerebellum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Tracheoesophageal fistula (HP:0002575): An abnormal connection (fistula) between the esophagus and the trachea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Short nose (HP:0003196): Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Fusion of the cerebellar hemispheres (HP:0006899). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Short phalanx of finger (HP:0009803): Short (hypoplastic) phalanx of finger, affecting one or more phalanges. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Complete duplication of thumb phalanx (HP:0009943): A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accessory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Polydactyly (HP:0010442): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Fusion of the left and right thalami (HP:0010664): A developmental defect characterized by fusion of the left and right halves of the thalamus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59315)
- Abnormal renal morphology (HP:0012210): Any structural anomaly of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:59315)
- Abnormal dentate nucleus morphology (HP:0100321): An abnormality of the dentate nucleus. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
- Septo-optic dysplasia (HP:0100842): Underdevelopment of the optic nerve and absence of the septum pellucidum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:59315)
- Posteriorly rotated ears (HP:0000358): A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:59315)
These phenotypes are associated with the disease Rhombencephalosynapsis (ORPHA:59315).