Total 55 clinical symptoms reported for Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome 
Blindness Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.
 
Synonyms:Blindness; Total vision loss
Very frequent
Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
 
Synonyms:Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum
Very frequent
Cerebellar vermis hypoplasia Underdevelopment of the vermis of cerebellum.
 
Synonyms:Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis
Very frequent
Cerebral visual impairment A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.
 
Synonyms:Cortical blindness; Cortical visual impairment; Cortical/cerebral visual impairment; CVI
Very frequent
Clonic seizure A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.
 
Very frequent
Diaphragmatic eventration A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development.
 
Very frequent
Dilated fourth ventricle An abnormal dilatation of the fourth cerebral ventricle.
 
Synonyms:Enlarged fourth ventricle
Very frequent
Dilated third ventricle An increase in size of the third ventricle.
 
Very frequent
Esodeviation A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally.
 
Synonyms:Convergent squint; Convergent strabismus
Very frequent
Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
 
Synonyms:Faltering weight; FTT; Postnatal failure to thrive; Weight faltering
Very frequent
Feeding difficulties Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
 
Synonyms:Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding
Very frequent
Gastroesophageal reflux A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
 
Synonyms:Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn
Very frequent
Global brain atrophy Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size.
 
Synonyms:Diffuse brain atrophy; Generalized brain atrophy; Generalized brain degeneration; Generalized cerebral atrophy
Very frequent
Global developmental delay A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
 
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development
Very frequent
Hyperreflexia Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
 
Synonyms:Increased deep tendon reflexes; Increased reflexes
Very frequent
Hypertonia A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
 
Synonyms:Hypertonicity; Increased muscle tone
Very frequent
Hypoplasia of the brainstem Underdevelopment of the brainstem.
 
Synonyms:Brainstem hypoplasia; Hypoplastic brain stem; Hypoplastic brainstem; Small brainstem; Underdeveloped brainstem
Very frequent
Intrauterine growth retardation An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
 
Synonyms:Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant
Very frequent
Irritability An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).
 
Synonyms:Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered
Very frequent
Limb hypertonia
 
Synonyms:Appendicular hypertonia; Increased muscle tone of arm or leg
Very frequent
Microcephaly Head circumference below 2 standard deviations below the mean for age and sex.
 
Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference
Very frequent
Moderate to late preterm birth Birth at 32 to 36 completed weeks of gestation.
 
Very frequent
Optic nerve hypoplasia Underdevelopment of the optic nerve.
 
Synonyms:Hypoplastic optic nerves; Underdeveloped optic nerves
Very frequent
Primary microcephaly Head circumference below 2 standard deviations below the mean for age and sex at birth.
 
Synonyms:Congenital decreased head circumference; Congenital microcephaly; Congenital small skull; Decreased head circumference present at birth; Microcephaly present at birth; Small cranium present at birth
Very frequent
Prominent nasal tip
 
Synonyms:Large nasal tip; Large tip of nose; Prominent nasal tip; Prominent tip of nose; Pronounced nasal tip; Pronounced tip of nose
Very frequent
Reduced cerebral white matter volume An abnormally low volume of the white matter of the brain.
 
Very frequent
Seizure 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.
 
Synonyms:Epileptic seizure; Seizures
Very frequent
Severe global developmental delay A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
 
Synonyms:Global developmental delay, severe
Very frequent
Sleep apnea An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
 
Synonyms:Pauses in breathing while sleeping; Sleep apnea; Sleep apnoea
Very frequent
Spastic tetraplegia Spastic paralysis affecting all four limbs.
 
Synonyms:Spastic quadriplegia
Very frequent
Tremor An unintentional, oscillating to-and-fro muscle movement about a joint axis.
 
Synonyms:Tremor; Tremors
Very frequent
Ventriculomegaly An increase in size of the ventricular system of the brain.
 
Synonyms:Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation
Very frequent