Delayed speech and language development, and Renal dysplasia

Medium match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

CAKUTHED is an autosomal dominant syndromic disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear. Most patients have hearing loss, and some may have global developmental delay (summary by Heidet et al., 2017).

• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Microcephaly
• Scoliosis

SOURCES: OMIM

Medium match MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS; MFHIEN

Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis is an X-linked recessive disorder with onset of features in early childhood. Anemia is sometimes present. Some patients may show mild early motor or speech delay, but cognition is normal (summary by Andreoletti et al., 2017).

• Intellectual disability
• Short stature
• Generalized hypotonia
• Hearing impairment
• Micrognathia

SOURCES: OMIM UMLS MONDO

Medium match MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F

Female-restricted X-linked syndromic mental retardation-99 is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development and mild to moderate intellectual disability. Affected females can have a wide range of additional congenital anomalies, including scoliosis, postaxial polydactyly, mild cardiac or urogenital anomalies, dysmorphic facial features, and mild structural brain abnormalities (summary by Reijnders et al., 2016).

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; MRXS99F Is also known as ;x-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: MONDO ORPHANET UMLS OMIM

Medium match JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd; joubert syndrome with jatd

• Global developmental delay
• Short stature
• Generalized hypotonia
• Hypertelorism
• Micrognathia

SOURCES: ORPHANET

Medium match OROFACIODIGITAL SYNDROME VI; OFD6

Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).

OROFACIODIGITAL SYNDROME VI; OFD6 Is also known as oral-facial-digital syndrome, type vi, ofds vi, varadi-papp syndrome, varadi syndrome, polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation;joubert syndrome with oral-facial-digital syndrome; joubert syndrome with orofaciodigital defect; ofd6; oral-facial-digital syndrome type 6; polydactyly-cleft lip/palate-psychomotor retardation syndrome; váradi syndrome; váradi-papp syndrome

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

SOURCES: SCTID UMLS OMIM ORPHANET

Medium match PHELAN-MCDERMID SYNDROME; PHMDS

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome;22q13 deletion; phelan-mcdermid syndrome

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Pica

SOURCES: UMLS MONDO OMIM ORPHANET GARD SCTID MESH

Medium match VELOCARDIOFACIAL SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome, vcf syndrome;vcfs, shprintzen vcf syndrome

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

SOURCES: OMIM

Medium match DIGEORGE SYNDROME; DGS

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as chromosome 22q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, third and fourth pharyngeal pouch syndrome

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

SOURCES: OMIM

Medium match BARDET-BIEDL SYNDROME 8; BBS8

BBS8 is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, postaxial polydactyly, hypogonadism, and developmental delay (Ansley et al., 2003).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
• Hearing impairment
• Cognitive impairment

SOURCES: MONDO MESH OMIM GARD UMLS DOID

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

• Autosomal recessive inheritance
• Global developmental delay
• Generalized hypotonia
• Hearing impairment
• Growth delay

SOURCES: UMLS MONDO OMIM