Delayed speech and language development, and Retinal dystrophy

Low match BARDET-BIEDL SYNDROME 14; BBS14

BBS14 is an autosomal recessive ciliopathy described in a single patient with features of retinitis pigmentosa, obesity, mental retardation, and renal disease (Leitch et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Obesity
• Rod-cone dystrophy

SOURCES: UMLS OMIM MONDO MESH DOID

Low match USHER SYNDROME, TYPE IJ; USH1J

Usher syndrome type I is an autosomal recessive condition characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa (usually evident within the first decade), and constant vestibular dysfunction. Type I is distinguished from type II (OMIM ) on the basis of severity of hearing loss and the extent of vestibular involvement. Type I patients are profoundly deaf, whereas type II patients are 'hard of hearing.' Vestibular function is defective in type I patients, whereas type II patients have normal vestibular function (Moller et al., 1989). Patients with type III (USH3 ) have progressive hearing loss.For a discussion of genetic heterogeneity of Usher syndrome type I, see USH1 (OMIM ).

• Autosomal recessive inheritance
• Hearing impairment
• Sensorineural hearing impairment
• Motor delay
• Congenital onset

SOURCES: OMIM DOID UMLS MONDO

Low match BARDET-BIEDL SYNDROME 13; BBS13

BBS13 is an autosomal recessive ciliopathy with features of obesity, polydactyly, and retinitis pigmentosa (Leitch et al., 2008; Xing et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Pica
• Obesity

SOURCES: DOID MESH UMLS OMIM MONDO

Low match PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.

• Autosomal recessive inheritance
• Global developmental delay
• Sensorineural hearing impairment
• Visual impairment
• Neonatal hypotonia

SOURCES: OMIM MONDO UMLS

Low match AUDITORY NEUROPATHY AND OPTIC ATROPHY; ANOA

ANOA is an autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades (summary by Paul et al., 2017).

• Hearing impairment
• Nystagmus
• Visual impairment
• Peripheral neuropathy
• Delayed speech and language development

SOURCES: OMIM

Low match NEPHRONOPHTHISIS 20; NPHP20

Nephronophthisis-20 is an autosomal recessive tubulointerstitial nephritis characterized by progressive renal fibrosis resulting in end-stage renal failure. The age at onset is relatively late compared to other forms of NPHP, and patients develop end-stage renal disease in the second or third decades. Unlike most other forms of NPHP, NPHP20 does not have features of a ciliopathy and patients do not appear to have extrarenal manifestations (summary by Macia et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

• Autosomal recessive inheritance
• Short stature
• Scoliosis
• Abnormal facial shape
• Rod-cone dystrophy

SOURCES: OMIM DOID MONDO UMLS

Low match BARDET-BIEDL SYNDROME 7; BBS7

BBS7 is an autosomal recessive disorder characterized by retinitis pigmentosa, postaxial polydactyly, mental retardation, obesity, renal anomalies, and hypogenitalism (Harville et al., 2010). Zaghloul and Katsanis (2009) estimated the contribution of BBS7 gene mutations to the total BBS mutational load to be 1.50%.For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Obesity
• Rod-cone dystrophy
• Hypogonadism

SOURCES: MESH EFO GARD DOID UMLS MONDO OMIM

Low match BARDET-BIEDL SYNDROME 20; BBS20

BBS20 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability (Lindstrand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Obesity
• Rod-cone dystrophy

SOURCES: UMLS OMIM MONDO

Low match MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME; MORMS Is also known as morm syndrome;intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Microcephaly
• Abnormal facial shape
• Cataract

SOURCES: ORPHANET GARD SCTID UMLS MONDO OMIM MESH

Low match PORETTI-BOLTSHAUSER SYNDROME; PTBHS

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

PORETTI-BOLTSHAUSER SYNDROME; PTBHS Is also known as ;poretti-boltshauser syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Generalized hypotonia
• Ataxia
• Nystagmus

SOURCES: MONDO UMLS ORPHANET OMIM