[…] the dentition Camptodactyly of finger Multicystic kidney dysplasia Rib fusion Aplasia/Hypoplasia involving the metacarpal bones Abnormality of the gallbladder Optic atrophy Macroglossia Nail dysplasia Sparse and thin eyebrow Holoprosencephaly Edema Splenomegaly [mendelian.co]

Most have hypotonia, constipation, and partial agenesis of the corpus callosum. Some patients have sensorineural hearing loss and joint laxity evolving into joint contractures. [mendelian.co]

Bilateral single transverse palmar creases Sandal gap Short distal phalanx of finger Death in infancy Small hand Recurrent pneumonia Dental malocclusion Tetralogy of Fallot Blue sclerae Hip dysplasia Short long bone Confusion Long eyelashes Generalized hirsutism [mendelian.co]

See More See Less Clinical Features Perrault syndrome is a sex-influenced disorder that is characterized by progressive, sensorineural deafness coupled with ovarian dysgenesis or premature ovarian failure (streak gonads) and infertility in females; however [preventiongenetics.com]

sensorineural deafness / DFNA17 Non-ocular stickler (STL3) / otospondylomegaepiphyseal dysplasia (OSMED)/ DFNA13/ DFNB53 Oculodentaldigital Dysplasia/ AR SNHL Palmoplantar keratoderma with deafness/ Nonsyndromic Sensorineural Mitochondrial Deafness/ [genedx.com]

Case: We report two siblings with gonadal dysgenesis, progressive sensorineural deafness, Marfanoid body proportions and skeletal features, and a normal female karyotype. The diagnosis of Perrault syndrome was made. [kundoc.com]

Audioprofiling may also assist in determining the rate of progressive hearing loss each year. [preventiongenetics.com]

Abstract Objective: To identify the genetic cause in 2 families of progressive ataxia, axonal neuropathy, hyporeflexia, and abnormal eye movements, accompanied by progressive hearing loss and ovarian dysgenesis, with a clinical diagnosis of Perrault syndrome [n.neurology.org]

[…] body height Small stature [ more ] 0004322 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Showing of 22 Last updated: 3/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have [rarediseases.info.nih.gov]

*) Muscle weakness UL UL Muscle atrophy UL UL Tendon reflexes UL Diminished Diminished Tendon reflexes LL Absent Absent Gait Steppage Steppage High-arched palate Pes cavus and clawed toes Other features—Hashimoto disease Lactate elevation n.a. [translational-medicine.biomedcentral.com]

Common neurological abnormalities are motor and sensory neuropathy, muscle weakness and atrophy, hypo- or areflexia, cerebellar ataxia, limited eye movements, nystagmus, dyspraxia, as well as intellectual deficit, developmental delay and seizures [ 4 [translational-medicine.biomedcentral.com]

Chromosome 5q14.3 deletion syndrome 613443 600662 Autosomal dominant MEFV 16p13.3 Familial Mediterranean fever, AR 249100 608107 Autosomal recessive MEFV 16p13.3 Familial Mediterranean fever, AD 134610 608107 Autosomal dominant MEGF10 5q23.2 Myopathy, areflexia [mnglabs.com]

Perrault syndrome is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations. 0100543 Dysarthria Difficulty articulating speech 0001260 Hyporeflexia Decreased reflex response Decreased reflexes [rarediseases.info.nih.gov]