Delayed speech and language development, and Hypothyroidism

Low match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as ;hereditary ceruloplasmin deficiency

• Autosomal recessive inheritance
• Ataxia
• Anemia
• Delayed speech and language development
• Dysarthria

SOURCES: GARD SCTID UMLS OMIM MONDO DOID ORPHANET

Low match PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

PITUITARY HORMONE DEFICIENCY, COMBINED, 3; CPHD3 Is also known as pituitary hormone deficiency, combined, with rigid cervical spine, deafness, sensorineural, with pituitary dwarfism;non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome

• Autosomal recessive inheritance
• Intellectual disability
• Short stature
• Generalized hypotonia
• Hearing impairment

SOURCES: MESH OMIM MONDO ORPHANET UMLS

Low match SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF

SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES; SHRF Is also known as ;retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

• Intellectual disability
• Global developmental delay
• Short stature
• Hearing impairment
• Nystagmus

SOURCES: OMIM ORPHANET

Low match GABRIELE-DE VRIES SYNDROME; GADEVS

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME; GADEVS Is also known as ;yy1 haploinsufficiency syndrome

• Intellectual disability
• Global developmental delay
• Growth delay
• Micrognathia
• Strabismus

SOURCES: OMIM UMLS MONDO ORPHANET

Low match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

• Intellectual disability
• Global developmental delay
• Scoliosis
• Cryptorchidism
• Depressed nasal bridge

SOURCES: ORPHANET

Low match NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD

NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET; IMNEPD Is also known as ;imnepd

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

SOURCES: OMIM UMLS ORPHANET MONDO

Low match ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE; ACRDYS2

Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012).For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (OMIM ).

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

SOURCES: UMLS OMIM MONDO

Low match MENTAL RETARDATION, X-LINKED 98; MRX98

X-linked mental retardation-98 is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).

MENTAL RETARDATION, X-LINKED 98; MRX98 Is also known as ;

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

SOURCES: UMLS OMIM SCTID MONDO ORPHANET

Low match ALLAN-HERNDON-DUDLEY SYNDROME; AHDS

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME; AHDS Is also known as allan-herndon syndrome, monocarboxylate transporter 8 deficiency, triiodothyronine resistance, t3 resistance, mental retardation, x-linked, with hypotonia, mental retardation and muscular atrophy;ahds; mct8 deficiency; monocarboxylate transporter 8 deficiency; x-linked intellectual disability-hypotonia syndrome

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

SOURCES: UMLS SCTID ORPHANET MONDO GARD NCIT OMIM DOID MESH

Low match POTOCKI-LUPSKI SYNDROME; PTLS

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

POTOCKI-LUPSKI SYNDROME; PTLS Is also known as chromosome 17p11.2 duplication syndrome;potocki-lupski syndrome; trisomy 17p11.2

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

SOURCES: OMIM MONDO NCIT GARD UMLS ORPHANET DOID SCTID