Total 16 clinical symptoms reported for Adenylosuccinate lyase deficiency  Very Frequent (16)

Abnormal facial shape	An abnormal morphology (form) of the face or its components.   Synonyms:Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies	Very frequent
Absent speech	Complete lack of development of speech and language abilities.   Synonyms:Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal	Very frequent
Anteverted nares	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).   Synonyms:Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils	Very frequent
Brachycephaly	An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.   Synonyms:Short and broad skull	Very frequent
Flat occiput	Reduced convexity of the occiput (posterior part of skull).   Synonyms:Flat posterior cranium; Posterior flattening of the skull	Very frequent
Generalized hypotonia	Generalized muscular hypotonia (abnormally low muscle tone).   Synonyms:Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized	Very frequent
Intellectual disability	Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.   Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation	Very frequent
Long philtrum	Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.   Synonyms:Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum	Very frequent
Low-set ears	Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.   Synonyms:Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia	Very frequent
Microcephaly	Head circumference below 2 standard deviations below the mean for age and gender.   Synonyms:Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small calvarium; small cranium; Small head circumference	Very frequent
Prominent metopic ridge	Vertical bony ridge positioned in the midline of the forehead.   Synonyms:Prominent frontal ridge; Prominent metopic suture; Ridging of metopic suture	Very frequent
Seizure	A seizure is an intermittent abnormality of nervous system physiology characterised 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
Short nose	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.   Synonyms:Decreased length of nose; Hypoplastic nose; Nasal hypoplasia; Short nose; Shortened nose	Very frequent
Smooth philtrum	Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.   Synonyms:Decreased depth of philtrum; Flat philtrum; Indistinct philtrum; Philtrum, smooth; Shallow philtrum; Simple philtrum	Very frequent
Thin upper lip vermilion	Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).   Synonyms:Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip	Very frequent