Question: What are the symptoms of Joubert syndrome ?
Answer: What are the signs and symptoms of Joubert syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Joubert syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Cognitive impairment 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Gait disturbance 50% Long face 50% Narrow forehead 50% Nystagmus 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Aganglionic megacolon 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Encephalocele 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Iris coloboma 7.5% Low-set, posteriorly rotated ears 7.5% Oral cleft 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Scoliosis 7.5% Seizures 7.5% Situs inversus totalis 7.5% Strabismus 7.5% Tremor 7.5% Occipital myelomeningocele 5% Renal cyst 5% Retinal dysplasia 5% Abnormality of saccadic eye movements - Abnormality of the foot - Agenesis of cerebellar vermis - Aggressive behavior - Ataxia - Autosomal recessive inheritance - Brainstem dysplasia - Central apnea - Cerebellar vermis hypoplasia - Chorioretinal coloboma - Dysgenesis of the cerebellar vermis - Elongated superior cerebellar peduncle - Enlarged fossa interpeduncularis - Epicanthus - Episodic tachypnea - Hemifacial spasm - Hepatic fibrosis - Heterogeneous - Hyperactivity - Hypoplasia of the brainstem - Impaired smooth pursuit - Intellectual disability - Low-set ears - Macrocephaly - Macroglossia - Molar tooth sign on MRI - Neonatal breathing dysregulation - Optic nerve coloboma - Phenotypic variability - Postaxial hand polydactyly - Prominent forehead - Protruding tongue - Retinal dystrophy - Self-mutilation - Triangular-shaped open mouth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: Is Joubert syndrome inherited ?
Answer: How is Joubert syndrome inherited? Joubert syndrome is predominantly inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier. In rare cases, when Joubert syndrome is caused by mutations in the OFD1 gene on the X chromosome, it is inherited in an X-linked recessive manner. X-linked recessive conditions usually occur in males, who only have one X chromosome (and one Y chromosome). Females have two X chromosomes, so if they have a mutation on one X chromosome, they still have a working copy of the gene on their other X chromosome and are typically unaffected. While females can have an X-linked recessive condition, it is very rare. If a mother is a carrier of an X-linked recessive condition and the father is not, the risk to children depends on each child's sex. Each male child has a 50% chance to be unaffected, and a 50% chance to be affected Each daughter has a 50% chance to be unaffected, and a 50% chance to be an unaffected carrier If a father has the condition and the mother is not a carrier, all sons will be unaffected, and all daughters will be unaffected carriers.
Source: GARD