Total 56 clinical symptoms reported for Alpha thalassemia-X-linked intellectual disability syndrome
| Abnormal fontanelle morphology |
An abnormality of the fontanelle.
|
Very frequent |
| Abnormality of the face |
An abnormality of the face.
Synonyms:Abnormal face; Abnormality of the face; Facial abnormality |
Very frequent |
| Abnormality of the male genitalia |
Abnormality of the male genital system.
Synonyms:Abnormal male genitals; Abnormality of the male genitalia |
Very frequent |
| Ambiguous genitalia |
Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.
Synonyms:Ambiguous external genitalia; Ambiguous external genitalia at birth; Intersex genitalia |
Very frequent |
| Aphasia |
An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write.
Synonyms:Difficulty finding words; Losing words; Loss of words |
Very frequent |
| Atypical behavior |
Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
Synonyms:Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Behavioural/psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances |
Very frequent |
| Cryptorchidism |
Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Synonyms:Cryptorchism; Undescended testes; Undescended testis |
Very frequent |
| Flat face |
Absence of concavity or convexity of the face when viewed in profile.
Synonyms:Flat face; Flat facial profile; Flat facial shape; Flat facies |
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 |
| Hypertelorism |
Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Synonyms:Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance |
Very frequent |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by 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 |
| Male pseudohermaphroditism |
Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes.
|
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 |
| Profound global developmental delay |
A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
Synonyms:Global developmental delay, profound |
Very frequent |