Delayed speech and language development, and Toe syndactyly

Low match CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Is also known as ;trisomy xp11.22-p11.23

• Intellectual disability
• Seizures
• Pica
• Delayed speech and language development
• Intellectual disability, severe

SOURCES: SCTID DOID ORPHANET MESH UMLS MONDO GARD OMIM

Low match 5Q14.3 MICRODELETION SYNDROME

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.

5Q14.3 MICRODELETION SYNDROME Is also known as del(5)(q14.3); monosomy 5q14.3

• Seizures
• Strabismus
• Muscular hypotonia
• Feeding difficulties
• Delayed speech and language development

SOURCES: ORPHANET

Low match YOU-HOOVER-FONG SYNDROME; YHFS

YOU-HOOVER-FONG SYNDROME; YHFS Is also known as ;you-hoover-fong syndrome

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

SOURCES: UMLS OMIM ORPHANET MONDO

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

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

SOURCES: OMIM UMLS MONDO

Low match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

• Intellectual disability
• Seizures
• Scoliosis
• Strabismus
• Motor delay

SOURCES: ORPHANET

Low match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as oddd, autosomal recessive, oculodentoosseous dysplasia, autosomal recessive, odod, autosomal recessive

• Autosomal recessive inheritance
• Global developmental delay
• Short stature
• Pica
• Micrognathia

SOURCES: GARD OMIM UMLS MESH MONDO

Low match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type;sialuria, french type

• Autosomal dominant inheritance
• Seizures
• Global developmental delay
• Generalized hypotonia
• Scoliosis

SOURCES: OMIM GARD MONDO ORPHANET DOID

Low match DUPLICATION/INVERSION 15Q11

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

DUPLICATION/INVERSION 15Q11 Is also known as invdup(15); isodicentric 15 chromosome; non-distal tetrasomy 15q; non-telomeric tetrasomy 15q; idic(15)

• Seizures
• Generalized hypotonia
• Microcephaly
• Growth delay
• Strabismus

SOURCES: MONDO UMLS ORPHANET MESH GARD

Low match ABLEPHARON-MACROSTOMIA SYNDROME; AMS

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome (see this term).

ABLEPHARON-MACROSTOMIA SYNDROME; AMS Is also known as ;

• Autosomal recessive inheritance
• Autosomal dominant inheritance
• Global developmental delay
• Hearing impairment
• Microcephaly

SOURCES: SCTID MONDO GARD MESH OMIM UMLS ORPHANET DOID

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 44; MRD44 Is also known as ;

• Autosomal dominant inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Pica

SOURCES: DOID MONDO UMLS OMIM ORPHANET