Delayed speech and language development, and Reduced visual acuity

Low match MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS; MRAMS

• Autosomal recessive inheritance
• Intellectual disability
• Seizures
• Global developmental delay
• Hearing impairment

SOURCES: MONDO OMIM UMLS

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

Low match SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO

Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

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

SOURCES: MONDO UMLS OMIM

Low match NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS; NEDMHM

• Intellectual disability
• Generalized hypotonia
• Microcephaly
• Nystagmus
• Strabismus

SOURCES: UMLS OMIM

Low match OPTIC ATROPHY 11; OPA11

OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

• Autosomal recessive inheritance
• Intellectual disability
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: UMLS MONDO OMIM

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Combined oxidative phosphorylation defect type 15 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by onset in infancy or early childhood of muscular hypotonia, gait ataxia, mild bilateral pyramidal tract signs, developmental delay (affecting mostly speech and coordination) and subsequent intellectual disability. Short stature, obesity, microcephaly, strabismus, nystagmus, reduced visual acuity, lactic acidosis, and a brain neuropathology consistent with Leigh syndrome are also reported.

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15 Is also known as ;coxpd15

• Autosomal recessive inheritance
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: UMLS ORPHANET OMIM MONDO

Low match LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12 Is also known as ;vps11-related autosomal recessive hypomyelinating leukoencephalopathy

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

SOURCES: OMIM MONDO DOID ORPHANET UMLS

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

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

SOURCES: OMIM

Low match SKRABAN-DEARDORFF SYNDROME; SKDEAS

SKDEAS is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

SKRABAN-DEARDORFF SYNDROME; SKDEAS Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features

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

SOURCES: ORPHANET OMIM

Low match GILLESPIE SYNDROME; GLSP

Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild (summary by Gerber et al., 2016 and McEntagart et al., 2016).

GILLESPIE SYNDROME; GLSP Is also known as aniridia, cerebellar ataxia, and mental retardation;gillespie syndrome

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

SOURCES: OMIM MONDO ORPHANET UMLS MESH GARD SCTID