Delayed speech and language development, and Dilatation

Diseases related with Delayed speech and language development and Dilatation

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Dilatation that can help you solving undiagnosed cases.


Top matches:

Low 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 ).

Related symptoms:

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


SOURCES: DOID MONDO UMLS OMIM

More info about NEPHRONOPHTHISIS 18; NPHP18

Low match LISSENCEPHALY 3; LIS3

Related symptoms:

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


SOURCES: ORPHANET MONDO MESH NCIT OMIM

More info about LISSENCEPHALY 3; LIS3

Low match AMINOACYLASE 1 DEFICIENCY; ACY1D

Aminoacylase-1 deficiency (ACY1D) is a rare autosomal recessive inborn error of metabolism characterized by increased urinary excretion of specific N-actyl amino acids. Most patients show neurologic abnormalities such as intellectual disability, seizures, hypotonia, and motor delay (summary by Ferri et al., 2014).

AMINOACYLASE 1 DEFICIENCY; ACY1D Is also known as ;acy1d; n-acyl-l-amino acid amidohydrolase deficiency

Related symptoms:

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


SOURCES: EFO SCTID UMLS MESH GARD MONDO OMIM ORPHANET

More info about AMINOACYLASE 1 DEFICIENCY; ACY1D

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Other less relevant matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

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


SOURCES: MONDO UMLS OMIM

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGC3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGC4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGC5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGC7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGC9 (OMIM ) caused by mutation in the DAG1 gene (OMIM ); MDDGC12 (OMIM ), caused by mutation in the POMK gene (OMIM ); and MDDGC14 (OMIM ) caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Motor delay


SOURCES: GARD NCIT MONDO EFO UMLS DOID OMIM ORPHANET SCTID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 Is also known as muscular dystrophy, congenital, gmppb-related

Related symptoms:

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


SOURCES: UMLS OMIM MONDO

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

Low match MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE Is also known as mental retardation, x-linked 60, formerly;mrx60, formerly;ophn1 syndrome; oligophrenin-1 syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID GARD MESH OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE

Low 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).

Related symptoms:

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


SOURCES: OMIM

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

Low match GM1-GANGLIOSIDOSIS, TYPE III

GM1-gangliosidosis type III is an autosomal recessive lysosomal storage disorder characterized by neurodegeneration and mild skeletal changes. Age at onset ranges from 3 to 30 years. The disorder is less severe than GM1-gangliosidosis types I and II (OMIM ). Type III shows extreme clinical variability, with some patients having only focal neurologic signs, such as dystonia, and others having more severe involvement with extrapyramidal signs and mental retardation. GLB1 enzymatic activity usually ranges from approximately 4 to 10% of control values (Suzuki et al., 2001).

GM1-GANGLIOSIDOSIS, TYPE III Is also known as gangliosidosis, generalized gm1, adult type, gangliosidosis, generalized gm1, chronic type, gangliosidosis, generalized gm1, type iii, gangliosidosis, generalized gm1, type 3;adult-onset gm1 gangliosidosis

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis


SOURCES: OMIM GARD UMLS SCTID ORPHANET MONDO

More info about GM1-GANGLIOSIDOSIS, TYPE III

Low match MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB

Beta-mannosidosis is an autosomal recessive lysosomal storage disease of glycoprotein catabolism caused by a deficiency of lysosomal beta-mannosidase activity. The most severely affected patients show developmental delay and mental retardation, but there are differing levels of severity and some patients may have comparatively mild disease (Bedilu et al., 2002) The disorder was first described in goats (Jones and Dawson, 1981), who have a more severe neurodegenerative disorder than that seen in humans.

MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB Is also known as beta-mannosidosis, lysosomal beta-mannosidase deficiency, beta-mannosidase deficiency;beta-mannosidase deficiency

Related symptoms:

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


SOURCES: OMIM MONDO SCTID MESH DOID NCIT ORPHANET GARD UMLS

More info about MANNOSIDOSIS, BETA A, LYSOSOMAL; MANSB

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Dilatation

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Dilatation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Motor delay Hypertonia Intellectual disability, severe Microcephaly Hearing impairment Muscular hypotonia Muscle weakness Infantile onset Hyperactivity Absent speech Elevated serum creatine phosphokinase Muscular dystrophy Scoliosis Flexion contracture Abnormal facial shape Tremor Intention tremor Cerebellar vermis hypoplasia Nystagmus Hypoplasia of the corpus callosum Ataxia Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Attention deficit hyperactivity disorder Feeding difficulties Wide nasal bridge Intellectual disability, moderate Intellectual disability, mild Cognitive impairment Angiokeratoma Myopathy Cataract Macrocephaly Generalized amyotrophy Congenital muscular dystrophy Poor head control Cerebellar cyst Neurological speech impairment Autistic behavior Skeletal muscle atrophy Hypertelorism Neonatal hypotonia Lissencephaly Cryptorchidism Spasticity Hydrocephalus Muscular hypotonia of the trunk Autism Polymicrogyria Thin upper lip vermilion Focal seizures Deep philtrum Dysmetria Renal dysplasia Narrow face Horseshoe kidney Spina bifida occulta Spina bifida Prominent supraorbital ridges Abnormality of the urinary system Chronic kidney disease Oligohydramnios Ectopic kidney Hyperechogenic kidneys Urethral valve Long face Bifid ureter Decreased numbers of nephrons Renal hypoplasia Abnormal cardiac septum morphology Vesicoureteral reflux Hypotelorism Focal seizures with impairment of consciousness or awareness Long nose External genital hypoplasia Poor eye contact Enlarged cisterna magna Microphallus Hypertension Abnormality of the philtrum Retrocerebellar cyst Prominent nose Abnormality of the kidney Disorganization of the anterior cerebellar vermis Growth delay Anteverted nares Renal insufficiency Polyhydramnios Abnormal cerebellum morphology Poor speech Abnormality of the nervous system Triangular face Scrotal hypoplasia Infra-orbital crease Agenesis of corpus callosum Short stature Aggressive behavior Anterior beaking of lumbar vertebrae Decreased beta-galactosidase activity Dysplasia of the femoral head Nevus Peripheral neuropathy Tics Splenomegaly Abnormality of metabolism/homeostasis Recurrent respiratory infections Recurrent infections Brachycephaly Hepatosplenomegaly Hypoplastic acetabulae Narrow palpebral fissure Impulsivity Proximal amyotrophy Pendular nystagmus Demyelinating peripheral neuropathy Angiokeratoma corporis diffusum Phonic tics Aspartylglucosaminuria Urinary glycosaminoglycan excretion Tortuosity of conjunctival vessels Hypoplasia of the abdominal wall musculature Stuttering Visceromegaly Dysarthria Athetosis Kyphosis Dystonia Pes cavus Myoclonus Rigidity Clonus Platyspondyly Parkinsonism Chorea Urinary incontinence Tetraparesis Abnormality of the face Facial grimacing Opacification of the corneal stroma Spastic tetraparesis Slurred speech Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Progressive spasticity Generalized dystonia Loss of speech Diffuse cerebral atrophy Flared iliac wings Foam cells Mental deterioration Frontal bossing Deeply set eye Portal fibrosis Hemiplegia Opisthotonus Syringomyelia Limb hypertonia Delayed CNS myelination Acute encephalopathy Myopia Thickening of the glomerular basement membrane Coma Microphthalmia Glaucoma Inability to walk Respiratory failure Corneal opacity Tubular atrophy Abnormality of the cerebral white matter Acrania Retinal dystrophy Cerebral calcification High myopia Leukodystrophy Holoprosencephaly Absence seizures Febrile seizures Renal cortical cysts Cortical dysplasia Abnormal pyramidal sign Tetraplegia Spastic tetraplegia Blindness Cortical visual impairment Pachygyria Intellectual disability, profound Heterotopia Hemiparesis Hypoplasia of the brainstem Abnormality of neuronal migration Apnea Cerebellar dysplasia Hemianopia Congenital microcephaly Esodeviation Sensorineural hearing impairment Cerebellar atrophy Cerebral atrophy Vomiting Encephalopathy Autosomal dominant inheritance Buphthalmos Tubulointerstitial nephritis Short philtrum Myopathic facies Abnormal glycosylation Impaired visuospatial constructive cognition Triceps weakness Thigh hypertrophy Cholestasis Ptosis Abnormal heart morphology Generalized muscle weakness Decreased fetal movement Torticollis Prolonged QT interval Type 1 muscle fiber predominance Generalized limb muscle atrophy Ileal atresia Stage 5 chronic kidney disease X-linked recessive inheritance Cerebral cortical atrophy Micropenis Prominent forehead Gait ataxia Mandibular prognathia Macrotia Limb-girdle muscle weakness Limb-girdle muscular dystrophy Nephronophthisis Ventricular hypertrophy Cardiomyopathy Respiratory distress Abdominal pain Proximal muscle weakness Myalgia Dyspnea Slow progression Difficulty walking Cough Waddling gait Lumbar hyperlordosis Spinal rigidity Trophic changes related to pain Left ventricular hypertrophy Gowers sign Easy fatigability Skeletal muscle hypertrophy Increased variability in muscle fiber diameter Calf muscle hypertrophy Difficulty climbing stairs Hypokinesia Centrally nucleated skeletal muscle fibers Increased urinary disaccharide excretion



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