Arthritis, and Distal muscle weakness

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

• Strabismus
• Spasticity
• Peripheral neuropathy
• Hyperreflexia
• Babinski sign

SOURCES: ORPHANET OMIM MESH MENDELIAN

Low match PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is a rare, syndromic genetic deafness characterized by a combination of muscle weakness, chronic neuropathic and myopathic features, hoarseness and sensorineural hearing loss. A wide range of disease onset and severity has been reported even within the same family.

PERIPHERAL NEUROPATHY-MYOPATHY-HOARSENESS-HEARING LOSS SYNDROME Is also known as peripheral neuropathy-myopathy-hoarseness-deafness syndrome

• Hearing impairment
• Sensorineural hearing impairment
• Muscle weakness
• Peripheral neuropathy
• Tremor

SOURCES: OMIM ORPHANET MENDELIAN

Low match AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

• Intellectual disability
• Hearing impairment
• Scoliosis
• Ataxia
• Hypertension

SOURCES: ORPHANET MENDELIAN

Low match DYSTONIA, DOPA-RESPONSIVE; DRD

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

• Intellectual disability
• Hearing impairment
• Scoliosis
• Nystagmus
• Spasticity

SOURCES: ORPHANET OMIM MENDELIAN

Low match EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

• Short stature
• Muscle weakness
• Pain
• Fatigue
• Myopathy

SOURCES: OMIM MESH MENDELIAN

Low match COMPLEMENT COMPONENT 2 DEFICIENCY; C2D

COMPLEMENT COMPONENT 2 DEFICIENCY; C2D Is also known as c2 deficiency

• Hypertension
• Renal insufficiency
• Immunodeficiency
• Recurrent infections
• Arthralgia

SOURCES: OMIM MENDELIAN

Low match GENERALIZED PUSTULAR PSORIASIS

Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

GENERALIZED PUSTULAR PSORIASIS Is also known as ditra|interleukin 36 receptor antagonist deficiency|acrodermatitis continua of hallopeau|generalized pustular psoriasis|psorp|gpp|palmoplantar pustulosis

• Muscle weakness
• Fever
• Headache
• Erythema
• Skin rash

SOURCES: OMIM ORPHANET MENDELIAN

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

• Short stature
• Generalized hypotonia
• Muscle weakness
• Abnormal facial shape
• Flexion contracture

SOURCES: OMIM MENDELIAN

Low match HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR

Autosomal dominant hypophosphatemic rickets is characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D3 (calcitriol) levels. Patients frequently present with bone pain, rickets, and tooth abscesses. In contrast to X-linked dominant hypophosphatemic rickets (XLH ), ADHR shows incomplete penetrance, variable age at onset (childhood to adult), and resolution of the phosphate-wasting defect in rare cases (Econs et al., 1997).See also hypophosphatemic bone disease (OMIM ). Genetic Heterogeneity of Hypophosphatemic RicketsOther forms of hypophosphatemic rickets include an autosomal recessive forms, i.e., ARHR1 (OMIM ), caused by mutation in the DMP1 gene (OMIM ) on chromosome 4q21, and ARHR2 (OMIM ), caused by mutation in the ENPP1 gene (OMIM ) on chromosome 6q22-q23. An X-linked dominant form (OMIM ) is caused by mutation in the PHEX gene (OMIM ), and an X-linked recessive form (OMIM ) is caused by mutation in the CLCN5 gene (OMIM ). Clinical Variability of Hypophosphatemic RicketsHypophosphatemic rickets can be caused by disorders of vitamin D metabolism or action (see VDDR1A, {264700}). A form of hypophosphatemic rickets with hypercalciuria (HHRH ) is caused by mutation in the SLC34A3 gene (OMIM ), and there is evidence that a form of hypophosphatemic rickets with hyperparathyroidism (OMIM ) may be caused by a translocation that results in an increase in alpha-klotho levels (KLOTHO ).

HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT; ADHR Is also known as vitamin d-resistant rickets, autosomal dominant|hypophosphatemia, autosomal dominant

• Short stature
• Hearing impairment
• Scoliosis
• Sensorineural hearing impairment
• Pain

SOURCES: OMIM MENDELIAN

Low match MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

• Short stature
• Muscle weakness
• Pain
• Depressed nasal bridge
• Gait disturbance

SOURCES: OMIM ORPHANET MESH MENDELIAN