Delayed speech and language development, and Stage 5 chronic kidney disease

High 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

High match NEPHRONOPHTHISIS 18; NPHP18

Nephronophthisis-18 is an autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients (summary by Failler et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of nephronophthisis, see NPHP1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Strabismus
• Delayed speech and language development
• Hypertension

SOURCES: DOID MONDO UMLS OMIM

High match SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY; SRTD11

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

• Autosomal recessive inheritance
• Short stature
• Cryptorchidism
• Delayed speech and language development
• Brachydactyly

SOURCES: MONDO UMLS OMIM DOID

Medium match CHROMOSOME 17q12 DELETION SYNDROME

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Müllerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transient hypercalcaemia have also been reported.

CHROMOSOME 17q12 DELETION SYNDROME Is also known as ;del(17)(q12); monosomy 17q12

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Short stature

SOURCES: UMLS DOID ORPHANET MONDO GARD OMIM

Medium match PIERSON SYNDROME

Pierson syndrome is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss (summary by Zenker et al., 2004).Mutations in the LAMB2 gene also cause nephrotic syndrome type 5 with or without mild ocular anomalies (NPHS5 ).

PIERSON SYNDROME Is also known as microcoria-congenital nephrotic syndrome;microcoria-congenital nephrosis syndrome

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Motor delay
• Muscular hypotonia

SOURCES: MONDO OMIM MESH SCTID DOID UMLS GARD NCIT ORPHANET

Medium match NEPHRONOPHTHISIS 11; NPHP11

• Autosomal recessive inheritance
• Global developmental delay
• Growth delay
• Nystagmus
• Strabismus

SOURCES: OMIM MONDO UMLS DOID

Medium match JOUBERT SYNDROME 5; JBTS5

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia

SOURCES: MONDO UMLS DOID MESH OMIM

Medium match NEPHRONOPHTHISIS 2; NPHP2

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

• Autosomal recessive inheritance
• Global developmental delay
• Anemia
• Hepatomegaly
• Hypertension

SOURCES: MONDO OMIM

Medium match JOUBERT SYNDROME 6; JBTS6

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa (Romano et al., 2006).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: MESH DOID OMIM UMLS MONDO

Medium match SENIOR-LOKEN SYNDROME 9; SLSN9

Senior-Loken syndrome-9 is an autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. Additional more variable features can include liver defects, skeletal anomalies, and obesity (summary by Bizet et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Senior-Loken syndrome, see {266900}.

• Autosomal recessive inheritance
• Global developmental delay
• Nystagmus
• Strabismus
• Abnormality of the skeletal system

SOURCES: OMIM MONDO UMLS