Symptoms of Absent corpus callosum cataract immunodeficiency
Clinical features
Imported from Human Phenotype Ontology (HPO)
- Abnormality of blood and blood-forming tissues
- Cutaneous anergy
- Decreased T cell activation
- Immunoglobulin IgG2 deficiency
- Abnormality of head or neck
- Abnormality of the palate
- Cleft palate
- Cleft upper lip
- Hypertelorism
- Hypoplastic mandible condyle
- Hypotelorism
- Microcephaly
- Abnormality of metabolism/homeostasis
- Acidosis
- Cutaneous anergy
- Decreased T cell activation
- Immunoglobulin IgG2 deficiency
- Abnormality of the cardiovascular system
- Congestive heart failure
- Dilated cardiomyopathy
- Hypertrophic cardiomyopathy
- Left ventricular hypertrophy
- Abnormality of the genitourinary system
- Abnormality of the renal tubule
- Hypospadias
- Abnormality of the immune system
- Cellular immunodeficiency
- Chronic mucocutaneous candidiasis
- Cutaneous anergy
- Decreased T cell activation
- Immunoglobulin IgG2 deficiency
- Recurrent fungal infections
- Recurrent viral infections
- Abnormality of the integument
- Albinism
- Chronic mucocutaneous candidiasis
- Generalized hypopigmentation
- Hypopigmentation of hair
- Abnormality of the musculature
- Muscular hypotonia
- Myopathy
- Abnormality of the nervous system
- Abnormal posturing
- Aplasia/Hypoplasia of the cerebellum
- Aplasia/Hypoplasia of the corpus callosum
- Brain atrophy
- Cerebellar vermis hypoplasia
- Cognitive delay
- Cognitive impairment
- Corpus callosum agenesis
- EEG abnormality
- Microcephaly
- No development of motor milestones
- SCHIZENCEPHALY
- Seizures
- White matter neuronal heterotopia
- Abnormality of the respiratory system
- Recurrent respiratory infections
- Abnormality of the skeletal system
- Hypoplastic mandible condyle
- Limitation of joint mobility
- Microcephaly
- Congenital anomaly of eye
- Abnormality of retinal pigmentation
- Abnormality of the macula
- Congenital cataract
- Hypertelorism
- Hypopigmentation of the fundus
- Hypotelorism
- Nystagmus
- Ocular albinism
- Optic atrophy
- Disorder of cardiovascular system
- Congestive heart failure
- Disorder of endocrine system
- Abnormality of the thymus
- Ear malformation
- Low-set ears
- Sensorineural hearing loss
- Growth abnormality
- Growth delay
- Short stature
Source: GTR (NCBI/NIH)1
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Symptoms
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References
- Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1855772/
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