- Intrauterine growth retardation (HP:0001511): An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:86822)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:86822)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Facial edema (HP:0000282). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Pachygyria (HP:0001302): Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Cerebellar hypoplasia (HP:0001321): Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Partial agenesis of the corpus callosum (HP:0001338): A partial failure of the development of the corpus callosum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Lissencephaly (HP:0001339): A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Pulmonary hypoplasia (HP:0002089). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Abnormal basal ganglia morphology (HP:0002134): Abnormality of the basal ganglia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Hypoplasia of the brainstem (HP:0002365): Underdevelopment of the brainstem. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Arthrogryposis multiplex congenita (HP:0002804): Multiple congenital contractures in different body areas. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Abnormal bone structure (HP:0003330): Any anomaly in the composite material or the layered arrangement of the bony skeleton. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Diffuse axonal swelling (HP:0003405). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Atrophy of the spinal cord (HP:0006827). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Cerebral hypoplasia (HP:0006872): Underdevelopment of the cerebrum. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Neuronal loss in the cerebral cortex (HP:0007190). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Abnormal cartilage matrix (HP:0008178). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Short distal phalanx of finger (HP:0009882): Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Short metacarpal (HP:0010049): Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
- Small basal ganglia (HP:0012697): Decreased size of the basal ganglia. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:86822)
These phenotypes are associated with the disease Lissencephaly type 3-metacarpal bone dysplasia syndrome (ORPHA:86822).